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Relevance to Autism

Studies have found genetic association and rare variations in the UBE3A gene that are associated with autism. Association was found in families of the Collaborative Linkage Study of Autism (Nurmi et al., 2001), and rare variants were found in cases of European ancestry.

Molecular Function

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.
ASD
Support
The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/-catenin pathway by inhibiting the proteasome.
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Support
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Epilepsy
ID, ASD, DD
Support
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Epilepsy/seizures
Angelman syndrome
Support
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome
DD, ID
Epilepsy/seizures
Support
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Non-syndromic ASD
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Angelman syndrome
DD, epilepsy/seizures
Support
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression
ASD
Developmental regression, ID, epilepsy/seizures
Support
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Angelman syndrome
ID
Support
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
ASD
ID
Support
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
ASD
Support
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
DD, learning disabilities
Neuropsychiatric phenotypes (anxiety, depression)
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
DD, ID, epilepsy/seizures
ADHD
Support
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population
DD
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Support
Expanding the genetic heterogeneity of intellectual disability.
ID, microcephaly, epilepsy/seizures
Support
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
DD, ID
Epilepsy/seizures
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Highly Cited
UBE3A/E6-AP mutations cause Angelman syndrome.
Recent Recommendation
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Recent Recommendation
Gene symbol: UBE3A. Disease: Angelman syndrome.
Recent Recommendation
UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis.
Recent Recommendation
Ube3a expression is not altered in Mecp2 mutant mice.
Recent Recommendation
A coding-independent function of an alternative Ube3a transcript during neuronal development.
Recent Recommendation
Imprinting in neurons.
Recent Recommendation
Role of the ubiquitin ligase E6AP/UBE3A in controlling levels of the synaptic protein Arc.
Recent Recommendation
E6AP/UBE3A ubiquitin ligase harbors two E2~ubiquitin binding sites.
Recent Recommendation
Impairment of TrkB-PSD-95 signaling in Angelman syndrome.
Recent Recommendation
Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila.
Recent Recommendation
Ube3a is required for experience-dependent maturation of the neocortex.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN262R001 
 missense_variant 
 c.601G>A 
 p.Ala201Thr 
 Familial (5 cases), Unknown (5 cases) 
 Maternal (3 cases); paternal (2 cases) 
 Simplex 
 GEN262R002 
 missense_variant 
 c.520A>G 
 p.Thr174Ala 
 Unknown 
  
 Simplex 
 GEN262R003 
 inframe_deletion 
 c.573_581del 
 p.Asp191_Lys193del 
 Familial 
 Paternal 
 Simplex 
 GEN262R004 
 missense_variant 
 c.333C>G 
 p.Asn111Lys 
  
  
 Multiplex 
 GEN262R005 
 synonymous_variant 
 c.1269C>T 
 p.(=) 
  
  
 Multiplex 
 GEN262R006 
 missense_variant 
 c.1585C>T 
 p.Arg529Cys 
 Familial 
 Maternal 
 Multiplex 
 GEN262R007 
 missense_variant 
 c.2110C>G 
 p.Pro704Ala 
 Unknown 
  
  
 GEN262R008 
 frameshift_variant 
 c.1798del 
 p.Trp600GlyfsTer15 
 Familial 
 Maternal 
 Multiplex 
 GEN262R009 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN262R010 
 missense_variant 
 c.1453A>G 
 p.Thr485Ala 
 De novo 
 NA 
 Simplex 
 GEN262R011 
 missense_variant 
 c.2609G>A 
 p.Gly870Asp 
 De novo 
 NA 
 Multiplex 
 GEN262R012 
 frameshift_variant 
 c.2572_2573insCTTA 
 p.Leu858ProfsTer3 
 De novo 
 NA 
  
 GEN262R013 
 missense_variant 
 c.408T>C 
 p.Ile136= 
 De novo 
 NA 
  
 GEN262R014 
 frameshift_variant 
 c.312_315del 
 p.Asn105ThrfsTer6 
 De novo 
 NA 
  
 GEN262R015 
 frameshift_variant 
 c.-284del 
  
  
  
 Multiplex 
 GEN262R016 
 frameshift_variant 
 c.1978_1979insCAGAGTTTAAAAG 
 p.Gln660ProfsTer14 
 De novo 
 NA 
  
 GEN262R017 
 missense_variant 
 c.2281G>A 
 p.Gly761Arg 
 De novo 
 NA 
  
 GEN262R018 
 frameshift_variant 
 c.2576_2579del 
 p.Lys859ArgfsTer4 
 De novo 
 NA 
  
 GEN262R019 
 stop_gained 
 c.1437C>A 
 p.Tyr479Ter 
 De novo 
 NA 
  
 GEN262R020 
 missense_variant 
 c.2439C>G 
 p.Asp813Glu 
 Unknown 
  
 Unknown 
 GEN262R021 
 inframe_deletion 
 c.1018_1020del 
 p.Phe340del 
 Familial 
 Maternal 
 Extended multiplex 
 GEN262R022 
 missense_variant 
 ENSG00000114062:ENST00000397954:exon10:c.C2429T:p.T810M,ENSG00000114062:ENST00000428984:exon11:c.C23 
  
 De novo 
 NA 
  
 GEN262R023 
 frameshift_variant 
 c.386_390del 
 p.Thr129ArgfsTer5 
 De novo 
 NA 
 Simplex 
 GEN262R024 
 stop_gained 
 c.2410C>T 
 p.Gln804Ter 
 De novo 
 NA 
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN262C001 
 microsatellite 
  
  
  
 CLSA 
 Discovery 
 GEN262C002 
 copy_number_gain 
  
  
  
 European, AGRE 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 3
 
15
Duplication
 7
 
15
Duplication
 2
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Deletion-Duplication
 98
 
15
Duplication
 7
 
15
Duplication
 66
  construct
15
Duplication
 5
 
15
Duplication
 14
 
15
Duplication
 3
 

Model Summary

Deficiency of the maternal allele of Ube3a results in impaired motor function, inducible seizures, learning deficits, abnormal hippocampal electroencephalographic recordings, and severely impaired long-term potentiation.

References

Type
Title
Author, Year
Additional
Ube3a is required for experience-dependent maturation of the neocortex.
Additional
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
Additional
Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome.
Additional
Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice.
Additional
Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome.
Additional
Reversal of impaired hippocampal long-term potentiation and contextual fear memory deficits in Angelman syndrome model mice by ErbB inhibitors.
Additional
Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models.
Additional
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome.
Additional
UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis.
Additional
GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility.
Additional
Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1.
Primary
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

M_UBE3A_4_HT_M-P+

Model Type: Genetic
Model Genotype: Heterozygous/ maternal deficiency
Mutation: A targeting vector replaced a 3 kb genomic DNA fragment containing exon 2 (299 bp; bp 3302 in GenBank number U82122) deleting 100 amino acids from the N-terminal end leading to a frameshift mutation and loss of all putative protein isoforms,mice heterozygous for this allele were bred to model Angelman's syndrome with the deficiency of the maternal allele (m-).
Allele Type: Targeted (knock-out)
Strain of Origin: 129S7/SvEvBrd-Hprt1
Genetic Background: 129S7/SvEvBrd * C57BL/6
ES Cell Line: AB2.2
Mutant ES Cell Line: Not Specified
Model Source: JAX (129-Ube3atm1Alb/J)

M_UBE3A_4_HT_P

Model Type: Genetic
Model Genotype: Heterozygous/ maternal deficiency
Mutation: A targeting vector replaced a 3 kb genomic DNA fragment containing exon 2 (299 bp; bp 3302 in GenBank number U82122) deleting 100 amino acids from the N-terminal end and shifting redaing frameto inactivate all putative protein isoforms.
Allele Type: Targeted (knock-out)
Strain of Origin: 129S7/SvEvBrd-Hprt1
Genetic Background: 129S7/SvEvBrd * C57BL/6
ES Cell Line: AB2.2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_UBE3A_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: A targeting vector replaced a 3 kb genomic DNA fragment containing exon 2 (299 bp; bp 3302 in GenBank number U82122) deleting 100 amino acids from the N-terminal end and shifting redaing frameto inactivate all putative protein isoforms.
Allele Type: Targeted (knock-out)
Strain of Origin: 129S7/SvEvBrd-Hprt1
Genetic Background: 129S7/SvEvBrd
ES Cell Line: AB2.2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_UBE3A_5_TG_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Insertion of 162-kb segment of mouse chromosome 7, containing the entire 78-kb exon-intron coding sequence of Ube3a as well as its 64-kb 5' and 21-kb 3' sequence using BAC recombineering techniques.
Allele Type: Targeted (Transgenic)
Strain of Origin: FVB/NJ
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_UBE3A_6_TG_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Insertion of 162-kb segment of mouse chromosome 7 ,twice, containing the entire 78-kb exon-intron coding sequence of Ube3a as well as its 64-kb 5' and 21-kb 3' sequence using BAC recombineering techniques.
Allele Type: Targeted (Transgenic)
Strain of Origin: FVB/NJ
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_UBE3A_3_HT_M

Model Type: Genetic
Model Genotype: Heterozygous/ paternal deficiency
Mutation: A targeting vector replaced a 3 kb genomic DNA fragment containing exon 2 (299 bp; bp 3302 in GenBank number U82122) deleting 100 amino acids from the N-terminal end and shifting redaing frameto inactivate all putative protein isoforms.
Allele Type: Targeted (knock-out)
Strain of Origin: 129S7/SvEvBrd-Hprt1
Genetic Background: 129S7/SvEvBrd
ES Cell Line: AB2.2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_UBE3A_10_CKO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Conditional deletion of exon 5 of the maternal copy of the Ube3a gene using Nex-cre, in the excitatory neurons, with authors assessments aligned to neocortical glutamatergic neurons. Authors note that Nex-cre does not cause deletion of Ube3a from ventral neuron populations or majority of dentate granule neurons.
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: 27021170

M_UBE3A_11_KO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: To allow temporally controlled reactivation of the Ube3a gene, using Cre-mediated deletion, a floxed transcriptional stop cassette is inserted within intron 3 by homologous recombination. In the absence of any cre recombinase mice are devoid of Ube3a expression from the inherited STOP allele (these are Ube3a STOP/p+ mice).
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background: 129S2/SvPasCrl* C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: 27021170

M_UBE3A_13_KO_HE_MOSAIC

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Mosaic deletion of exon 5 of Ube3a gene (maternal copy) via AAV vector containing cre recombinase were injected intracerebroventrically into neonatal pups. This produced a sparce mosaic of viral transduction in neurons, including pyramidal neurons
Allele Type: Mosaic
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: 27021170

M_UBE3A_14_KO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Ube3a STOP/p+ mice are maintained in the 129S2/SvPasCrl background for seizure experiments.
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background: 129S2/SvPasCrl
ES Cell Line:
Mutant ES Cell Line:
Model Source: 25866966

M_UBE3A_15_CKO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Conditional deletion of exon 5 of the maternal copy of the Ube3a gene using Gad-cre, in gabaergic neurons of the neocortex (maintained on 129S2/SvPasCrl background)
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: 129S2/SvPasCrl
ES Cell Line:
Mutant ES Cell Line:
Model Source: 27021170

M_UBE3A_7_CKO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Conditional deletion of exon 5 of the maternal copy of the Ube3a gene using Gad-cre, in gabaergic neurons of the neocortex
Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: C57BL/6
Mutant ES Cell Line:
Model Source: 27021170

M_UBE3A_8_CKO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Conditional deletion of exon 5 of the maternal copy of the Ube3a gene using Nestin-cre, in neuronal, glial and other cell types in the central and peripheral nervous system
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: 27021170

M_UBE3A_9_CKO_HE

Model Type: Genetic
Model Genotype: Hemizygous
Mutation: Ube3a STOP/p+ mice (see UBE3A_11_KO_HE) that do not express maternally inherited Ube3a are crossed with Gad-cre heterozygous males that reinstates maternal Ube3a expression only in Gabaergic interneurons, still leaving the Cux1 positive glutamatergic interneurons devoid of maternal Ube3a. Authors use these mice to study the effects of loss of Ube3a from glutamatergic interneurons.
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: 129S2/SvPasCrl* C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: 27021170

M_UBE3A_16_HT_M-P+

Model Type: Genetic
Model Genotype: Heterozygous/ maternal deficiency
Mutation: Same mutation as UBE3A_4_HT_p, with targeting exon 2 and loss of all isoforms of Ube3a following deletion of 100 aas from N term, the mutant allele (deficiency) in inherited maternally and the wild type allele is paternal.
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background: FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: 9808466

M_UBE3A_17_HM_TG

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Ub3a overexpressing (2 fold increase in expression compared to WT) mice were generated using BAC recombineering using a 162 kb segment of Mmu17 containing the entire Ube3a exon-intron coding segment and 5' and 3' UTRs into FVB embryos. The behavioral phenotype for this model was similar whether or not the construct contains C terminal flag tags- present after exon 10 of isoform 3, therefore phenotypes of flagged and unflagged het transgenic mice expressing one additional copy of Ube3a are represented by the same model. Ube3a heterozygous transgenic mice were crossed to generate homozygous mice.
Allele Type: Transgenic
Strain of Origin:
Genetic Background: FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: 28297715

M_UBE3A_17_HT_TG

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Ub3a overexpressing mice (1.5 fold increase in Ube3a expression) were generated using BAC recombineering using a 162 kb segment of Mmu17 containing the entire Ube3a exon-intron coding segment and 5' and 3' UTRs into FVB embryos. The behavioral phenotype for this model was similar whether or not the construct contains C terminal flag tags- present after exon 10 of isoform 3, therefore phenotypes of flagged and unflagged het transgenic mice expressing one additional copy of Ube3a are represented by the same model.
Allele Type: Transgenic
Strain of Origin:
Genetic Background: FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: 28297715

M_UBE3A_17_HT_TG_IN_PTZ

Model Type: Multifactorial
Model Genotype: Homozygous
Mutation: Transgenic mice heterozygous for BAC expressing untagged Ube3a (expression levels twice of wild type) were injected (i.p.) with subconvulsant dose of PTZ, 30mg/kg dissolved in saline, every other day, for 10 days.
Allele Type: Transgenic
Strain of Origin:
Genetic Background: FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: 28297715

M_UBE3A_18_HT_TG

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Two in frame nuclear localization signals (NLS) were added to the C terminal, following 3 flag tags to the BAC encoding the Ube3a coding region (same as Ube3a_17_HT_TG), the mice are heterozygous for this construct and the all the Ube3a is localized to the nucleus.
Allele Type: Transgenic
Strain of Origin:
Genetic Background: FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: 28297715

M_UBE3A_19_CKI_IN_PTZ

Model Type: Multifactorial
Model Genotype: Homozygous
Mutation: This multifactorial model for ASD was generated using conditional overexpression of Ube3a in Slc6a3 (DAT) positive cells and induction of siezures using PTZ. Transgenic mice, homozygous for lox-TB-Ube3-flagged BAC containing a floxed transcriptional blocker in intron 1, suppressing the expression of Ube3a in the absence of cre recombinase, were crossed with Slc6a3 (DAT)-cre mice and then treated with i.p. injections of 30mg/kg (subconvulsant dosing) pentylenetetrazole (PTZ) dissolved in saline, delivered every other day for 10 days.
Allele Type: Transgenic
Strain of Origin:
Genetic Background: FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: 28297715

M_UBE3A_20_CKI_IN_PTZ

Model Type: Multifactorial
Model Genotype: Homozygous
Mutation: This multifactorial model for ASD was generated using conditional overexpression of Ube3a in VGLUT2 positive cells and induction of siezures using PTZ. Transgenic mice, homozygous for lox-TB-Ube3-flagged BAC containing a floxed transcriptional blocker in intron 1, suppressing the expression of Ube3a in the absence of cre recombinase, were crossed with VGLUT2-cre mice and then treated with i.p. injections of 30mg/kg (subconvulsant dosing) pentylenetetrazole (PTZ) dissolved in saline, delivered every other day for 10 days.
Allele Type: Transgenic
Strain of Origin:
Genetic Background: FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: 28297715

M_UBE3A_21_CKI_IN_PTZ

Model Type: Multifactorial
Model Genotype: Homozygous
Mutation: This multifactorial model for ASD was generated to study the role of overexpression of Ube3a specifically in ventral tegmental area (VTA) in combination with subconvulsant doses of pentylenetetrazole (PTZ). AAV-hSYN-DIO-UBE3A (human isoform 3) was stereotaxically injected in the VTA of Vglut2 cre mice allowing the expression of human, untagged UBE3A in the Vglut2 + cells of the VTA.
Allele Type: Transgenic
Strain of Origin:
Genetic Background: FVB/NJ
ES Cell Line:
Mutant ES Cell Line:
Model Source: 28297715

M_UBE3A_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: A targeting vector replaced a 3 kb genomic DNA fragment containing exon 2 (299 bp; bp 3302 in GenBank number U82122) deleting 100 amino acids from the N-terminal end and shifting redaing frameto inactivate all putative protein isoforms.
Allele Type: Targeted (knock-out)
Strain of Origin: 129S7/SvEvBrd-Hprt1
Genetic Background: 129S7/SvEvBrd * C57BL/6
ES Cell Line: AB2.2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_UBE3A_3_HT_M+P-

Model Type: Genetic
Model Genotype: Heterozygous/ paternal deficiency
Mutation: A targeting vector replaced a 3 kb genomic DNA fragment containing exon 2 (299 bp; bp 3302 in GenBank number U82122) deleting 100 amino acids from the N-terminal end leading to a frameshift mutation and loss of all putative protein isoforms, heterozygous mice were bred to produce paternal deficiency of Ube3a.
Allele Type: Targeted (knock-out)
Strain of Origin: 129S7/SvEvBrd-Hprt1
Genetic Background: 129S7/SvEvBrd
ES Cell Line: AB2.2
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_UBE3A_4_HT_M-P+

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic plasticity: hippocampal ltp1
Decreased
Description: In the hippocampal slices from mice lacking maternal ube3a, if a second tbs (tbs2) applied 60 min after the first (tbs1) there is an no enhancement of ltp, unlike in wild type slices as they undergo a refractory period of about 60 min after tbs1, following which the ltp magnitude was enhanced by tbs2.
Exp Paradigm: NA
 Theta burst stimulation (tbp)
 NA
Synaptic plasticity: hippocampal ltp1
Increased
Description: In the hippocampal slices from mice lacking maternal ube3a, a second tbs applied 10 or 45 min after the first (tbs1) there is an enhancement of ltp, unlike in wild type slices as they undergo a refractory period after tbs1 during which another tbs stimulation cannot enhance ltp magnitude.
Exp Paradigm: NA
 Theta burst stimulation (tbp)
 NA
Synaptic transmission2
Decreased
Description: Deficit in long-term synaptic potentiation in the hippocampus
Exp Paradigm: Ltp at schaffer collateral synapses in area ca1, using high-frequency stimulation
 Field potential recordings
 1416 weeks
Cued or contextual fear conditioning: memory of cue1
Decreased
Description: Mice lacking maternal ube3a show significantly reduced freezing behavior compared to wild type in response to reintroduction to cs of the tone after which they received a shock previously
Exp Paradigm: NA
 Fear conditioning test
 2-4 months
Cued or contextual fear conditioning: memory of context1
Decreased
Description: Mice lacking maternal ube3a show significantly reduced freezing behavior compared to wild type in response to reintroduction to cs of the context where they received a shock
Exp Paradigm: NA
 Fear conditioning test
 2-4 months
Protein expression level evidence1
Increased
Description: Mice with maternal deficiency of ube3a have increased levels of small-conductance calcium-activated potassium channel 2 (sk2) in the synaptosomal and psd enriched subcellular fractions of the hippocampus, compared to wt controls
Exp Paradigm: NA
 Western blot
 2-4 months
Protein ubiquitination1
Decreased
Description: There is a significant reduction in the ubiquitination of sk2 (which co immunoprecipitates with ube3a and is shown separately to be ubiquitinated by ube3a in wild type), in mice lacking maternal ube3a
Exp Paradigm: NA
 Immunoprecipitation
 2-4 months
Protein localization: synapse1
Increased
Description: Concominant with increased levels of sk2 the expression or localization of this protein to the puncta is also significantly increased in mice lacking maternal ube3a.
Exp Paradigm: NA
 Immunohistochemistry
 2-4 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_UBE3A_4_HT_P

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Motor coordination and balance5
Abnormal
Description: Impaired muscle coordination
Exp Paradigm: Bar-crossing test- horizontal bar test
 Horizontal bar test
 8 - 12 weeks
Gait2
Abnormal
Description: Abnormal gait characterized by long hind-limb stride length
Exp Paradigm: Gait analysis
 Footprint analysis
 7-8 months
Motor coordination and balance2
Decreased
Description: Decreased muscle coordination demonstrated by shorter latency to fall
Exp Paradigm: Rotarod test
 Accelerating rotarod test
 7-8 months
Gait5
Abnormal
Description: Abnormal gait
Exp Paradigm: Step length (left-left distance), step width (left-right distance) and left-right alternative coefficient analysis
 Footprint analysis
 8 - 12 weeks
Motor coordination and balance2
Decreased
Description: Decreased fine motor skills
Exp Paradigm: Balance beam test
 Balance beam test
 7-8 months
Clasping reflex2
Increased
Description: Increased hind-limb clasping
Exp Paradigm: NA
 Tail suspension test
 7-8 months
Motor coordination and balance5
Abnormal
Description: Impaired muscle coordination
Exp Paradigm: Bar-crossing test-accelerating rotarod test
 Accelerating rotarod test
 8 - 12 weeks
Grip strength2
Decreased
Description: Decreased motor strength demonstrated by increased latency to climb downwards
Exp Paradigm: Vertical pole test
 Vertical pole test
 7-8 months
Brain cytoarchitecture2
Decreased
Description: Decreased number of dopaminergic neurons in substantia nigra
Exp Paradigm: Stereological quantification after double immunostaining with th and e6-ap antibodies in substantia nigra
 Immunohistochemistry
 7-8 months
Synaptic plasticity1
Abnormal
Description: Abnormal synaptic transmission; absence of induction of ltd and ltp with standard stimulation and weak stimulation protocols respectively
Exp Paradigm: Whole-cell patch-clamp recordings in layer 2/3 pyramidal neurons of visual cortex after conditioning stimuli- whole-cell patch-clamp: long-term depression (ltd)
 Whole-cell patch clamp
 3 weeks, 3 months
Synaptic transmission1
Abnormal
Description: Abnormal synaptic transmission; decreased mepsc frequency, no change in mepsc amplitude
Exp Paradigm: Whole-cell patch-clamp recordings in layer 2/3 pyramidal neurons of visual cortex
 Whole-cell patch clamp
 > 3 weeks
Synaptic plasticity: hippocampal ltp5
Decreased
Description: Deficit in long-term synaptic potentiation in the hippocampus
Exp Paradigm: Ltp at schaffer collateral synapses in area ca1, using high-frequency stimulation
 Field potential recordings
 14-16 weeks
Synaptic plasticity1
Abnormal
Description: Abnormal synaptic transmission; absence of induction of ltd and ltp with standard stimulation and weak stimulation protocols respectively
Exp Paradigm: Whole-cell patch-clamp recordings in layer 2/3 pyramidal neurons of visual cortex after conditioning stimuli-whole-cell patch-clamp: long-term potentiation (ltp)
 Whole-cell patch clamp
 3 weeks, 3 months
Seizures5
Decreased
Description: Absence seizures
Exp Paradigm: Eeg recordings on awake, active mouse
 Electroencephalogram (eeg)
 45 months
Seizures5
Increased
Description: Increased frequency of inducible audiogenic seizure
Exp Paradigm: Audiogenic stimulus for seizure induction
 Audiogenic seizure test
 5 - 10 weeks
Sensorimotor gating2
Abnormal
Description: Abnormal sensorimotor functioning demonstrated by increased time required to remove adhesive
Exp Paradigm: Adhesive removal test
 Adhesive tape test
 7-8 months
Size/growth5
Decreased
Description: Statistically significant reduction in total body weight , brain, cerebral cortex, and cerebellum
Exp Paradigm: General observations
 Body weight measurement
 P18
Cued or contextual fear conditioning: memory of context5
Decreased
Description: Defective context-dependent learning
Exp Paradigm: Context-dependent fear conditioning
 Fear conditioning test
 34 months
Regulation of gene expression5
Increased
Description: Increased cytoplasmic abundance of p53 in purkinje cells
Exp Paradigm: Gene regulation
 Immunohistochemistry
 12-16 weeks
Protein expression level evidence4
Decreased
Description: Decreased expression of presynaptic protein synaptophysin and postsynaptic density protein psd95 in striatum
Exp Paradigm: Synaptic protein expression
 Western blot
 Unreported
Protein phosphorylation2
Increased
Description: Increased phosphorylation of acamkii in striatum
Exp Paradigm: Acamkii phosphorylation
 Immunohistochemistry
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of ube3a protein in visual cortex
Exp Paradigm: Ube3a protein expression-western blot
 Western blot
 3 weeks
Protein expression level evidence1
Decreased
Description: Decreased expression of ube3a protein in visual cortex
Exp Paradigm: Ube3a protein expression- immunohistochemistry: fluorescence
 Immunohistochemistry
 3 weeks
General characteristics5
 No change
 General observations
 P21
Anxiety3
 No change
 Light-dark exploration test
 4 months
Anxiety3
 No change
 Novel object recognition test
 4 months
Protein expression level evidence3
 No change
 Immunohistochemistry
 4 months
Protein expression level evidence3
 No change
 Immunohistochemistry
 4 months
Protein expression level evidence3
 No change
 Immunohistochemistry
 4 months
Protein expression level evidence4
 No change
 Western blot
 12-15 weeks
Ataxia5
 No change
 NA
 8 - 12 weeks
Brain cytoarchitecture3
 No change
 Immunohistochemistry
 4 months
Dendritic architecture: spine density1
 No change
 Sholl analysis
 3 weeks
Synaptic plasticity1
 No change
 Whole-cell patch clamp
 3 weeks, 3 months
Synaptic plasticity1
 No change
 Whole-cell patch clamp
 3 weeks, 3 months
Synaptic transmission1
 No change
 Whole-cell patch clamp
 3 weeks
Synaptic transmission1
 No change
 Whole-cell patch clamp
 P10
Bioactive compound levels: tetrahydrobiopterin4
 No change
 High-performance liquid chromatography with electrochemical detection (hplc-ec)
 12-15 weeks
Hormone levels3
 No change
 Elisa
 4 months
Vision1
 No change
 Visual evoked potential recordings
 4 weeks
Vision1
 No change
 Visual evoked potential recordings
 4 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_UBE3A_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Limb posture3
Abnormal
Description: Abnormal posture
Exp Paradigm: NA
 General observations
 Unreported
Clasping reflex3
Abnormal
Description: Abnormal hindlimb clasping
Exp Paradigm: General observations
 Tail suspension test
 Unreported
Synaptic morphology1
Abnormal
Description: Abnormal neuronal circuit morphology demonstrated by decreased density of glur1 puncta closely apposed to sv2 puncta
Exp Paradigm: Array tomography using anti-glur1 and anti-sv2 antibodies on ultra-thin sections of brain tissue
 Array tomography
 Unreported
Synaptic plasticity: hippocampal ltp2
Decreased
Description: Decreased long term potentiation induction from high-frequency stimulation
Exp Paradigm: Extracellular recordings after two trains of hfs
 Field potential recordings
 10-16 weeks
Neuronal activation following behavioral stimulation: arc levels1
Increased
Description: Increased expression of arc protein in response to enhanced neuronal activity
Exp Paradigm: Western blot analysis using anti-arc antibody in response to kainic acid treatment
 Western blot
 Unreported
Miniature post synaptic currents: inhibitory2
Abnormal
Description: Abnormal miniature inhibitory postsynaptic currents (mipsc)s indicated by decreased frequency with no change in amplitude
Exp Paradigm: Intracellular recordings in presence of erbb inhibitor pd168393 (10 micromol/l)
 Whole-cell patch clamp
 10-16 weeks
Synaptic transmission1
Decreased
Description: Decreased ratio of ampa/nmda receptor mediated currents in ca1 hippocampal pyramidal neurons
Exp Paradigm: Whole-cell recordings in ca1 hippocampal pyramidal neurons
 Whole-cell patch clamp
 Unreported
Ion influx and permeability: chlorine2
Decreased
Description: Decreased chloride inhibitory currents in cornu ammonis 1 (ca1) pyramidal neurons in hippocampal slices
Exp Paradigm: Intracellular recordings in presence of erbb inhibitor pd168393 (10 micromol/l)
 Whole-cell patch clamp
 10-16 weeks
Seizures3
Increased
Description: Increased frequency of inducible audiogenic seizures
Exp Paradigm: Audiogenic stimulus for seizure induction
 Audiogenic seizure test
 5-10 weeks
Size/growth3
Decreased
Description: Growth retardation during postnatal development
Exp Paradigm: General observations
 Audiogenic seizure test
 Unreported
Mortality/lethality3
Increased
Description: Postnatal lethality
Exp Paradigm: General observations
 General observations
 P2
Cued or contextual fear conditioning: memory of context2
Decreased
Description: Decreased contextual fear conditioning as measured by average % freezing
Exp Paradigm: Contextual fear conditioning test
 Fear conditioning test
 10-16 weeks
Protein phosphorylation2
Abnormal
Description: Abnormal erbb4 phosphorylation states indicated by increased levels on tyrosine 1056 and 1162 and no change on tyrosine 1188
Exp Paradigm: Erbb4 phosphorylation state
 Western blot
 Unreported
Protein expression level evidence2
Increased
Description: Increased protein levels of nrg1 type 1 and type ii in hippocampus
Exp Paradigm: Nrg1 protein expression
 Western blot
 Unreported
Protein expression level evidence2
Decreased
Description: Decreased total levels of erbb4 protein in hippocampus
Exp Paradigm: Erbb4 protein levels
 Western blot
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased expression of glur1 subunit of ampa receptor at plasma membrane of synapses
Exp Paradigm: Ampar expression
 Western blot
 Unreported
Cued or contextual fear conditioning: memory of context2
 No change
 Fear conditioning test
 10-16 weeks
Protein expression level evidence2
 No change
 Western blot
 Unreported
Protein expression level evidence2
 No change
 Western blot
 Unreported
Protein phosphorylation2
 No change
 Western blot
 Unreported
Protein phosphorylation2
 No change
 Western blot
 Unreported
Synaptic morphology1
 No change
 Array tomography
 Unreported
Presynaptic function: paired-pulse facilitation2
 No change
 Field potential recordings
 10-16 weeks
Presynaptic function: paired-pulse facilitation2
 No change
 Field potential recordings
 10-16 weeks
Presynaptic function: paired-pulse facilitation2
 No change
 Field potential recordings
 10-16 weeks
Synaptic plasticity: hippocampal ltp2
 No change
 Field potential recordings
 10-16 weeks
Synaptic plasticity: hippocampal ltp2
 No change
 Field potential recordings
 10-16 weeks
Synaptic plasticity: hippocampal ltp2
 No change
 Field potential recordings
 10-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_UBE3A_5_TG_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social interaction1
Abnormal
Description: Abnormal social interaction demonstrated by no preference fo social zone but significant preference to interact with cage occupied by mouse
Exp Paradigm: Three-chamber social interaction test in juveniles
 Three-chamber social approach test
 Unreported
Ultrasonic vocalization1
Decreased
Description: Decreased number of vocalizations and time spent vocalizing
Exp Paradigm: Vocalizations generated by sexually experienced males exposed to female urine
 Monitoring ultrasonic vocalizations
 Unreported
Protein expression level evidence1
Increased
Description: Increased expression of ube3a (2 times) in whole-brain lysates
Exp Paradigm: Ube3a gene/protein expression-quantitative pcr (qrt-pcr)
 Quantitative pcr (qrt-pcr)
 Unreported
Protein expression level evidence1
Increased
Description: Increased expression of ube3a (2 times) in whole-brain lysates
Exp Paradigm: Ube3a gene/protein expression- western blot
 Western blot
 Unreported
Ultrasonic vocalization1
 No change
 Monitoring ultrasonic vocalizations
 Unreported
Ultrasonic vocalization1
 No change
 Monitoring ultrasonic vocalizations
 Unreported
Response to novelty1
 No change
 NA
 Unreported
Object recognition memory1
 No change
 Novel object recognition test
 Unreported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 Unreported
Righting response1
 No change
 NA
 Unreported
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 Unreported
Olfaction1
 No change
 Olfactory habituation-dishabituation test
 Unreported
Social interaction1
 No change
 Three-chamber social approach test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure

M_UBE3A_6_TG_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic transmission1
Decreased
Description: Decreased epsc amplitude in response to a weak glutamate recpetor antagonist, gamma-dgg
Exp Paradigm: Whole-cell voltage-clamp recordings in acute brain slices after administration of gamma-dgg
 Whole-cell patch clamp
 Unreported
Presynaptic function: paired-pulse facilitation1
Increased
Description: Increased paried-pulse ratio
Exp Paradigm: NA
 Whole-cell patch clamp
 Unreported
Synaptic transmission1
Decreased
Description: Decreased miniature epsc (mepsc) amplitude and frequency
Exp Paradigm: Whole-cell voltage-clamp recordings with action potentials inhibited in acute brain slices
 Whole-cell patch clamp
 Unreported
Neurotransmitter release1
Decreased
Description: Decreased release probability
Exp Paradigm: Repeated minimum stimulation protocol
 Repeated minimum stimulation protocol
 Unreported
Synaptic transmission1
Decreased
Description: Decreased epsc amplitude, spontaneous ipsc amplitude, and spontaenous epsc amplitude and frequency
Exp Paradigm: Whole-cell voltage-clamp recordings in acute brain slices
 Whole-cell patch clamp
 Unreported
Epsp-spike relationship1
Decreased
Description: Decreased epsc spike coupling with no change in actino potential threshold, capacitance, and resting membrane potential
Exp Paradigm: Patch clamp recordings after short epsc like current injections
 Whole-cell patch clamp
 Unreported
Self grooming: perseveration1
Increased
Description: Increased self grooming
Exp Paradigm: Observation of self grooming for 10 mins in clean cage
 Grooming behavior assessments
 Unreported
Social interaction1
Decreased
Description: Decreased social preference with no preference for side containing novel mouse
Exp Paradigm: Three-chamber social interaction test in adults
 Three-chamber social approach test
 Unreported
Social interaction1
Decreased
Description: Decreased social interaction with a failure to show social preference
Exp Paradigm: Three-chamber social interaction test in juveniles
 Three-chamber social approach test
 Unreported
Ultrasonic vocalization1
Decreased
Description: Decreased social stimulus induced vocalizations
Exp Paradigm: Vocalizations generated by same-sex pairs encountering each other for the first time
 Monitoring ultrasonic vocalizations
 Unreported
Ultrasonic vocalization1
Decreased
Description: Decreased number of vocalizations and time spent vocalizing
Exp Paradigm: Vocalizations generated by sexually experienced males exposed to female urine
 Monitoring ultrasonic vocalizations
 Unreported
Protein expression level evidence1
Increased
Description: Increased expression of ube3a (3 times) in whole-brain lysates
Exp Paradigm: Ube3a gene/protein expression
 Quantitative pcr (qrt-pcr)
 Unreported
Ultrasonic vocalization1
 No change
 Monitoring ultrasonic vocalizations
 Unreported
Anxiety1
 No change
 Elevated plus maze test
 Unreported
Response to novelty1
 No change
 NA
 Unreported
Object recognition memory1
 No change
 Novel object recognition test
 Unreported
Protein localization: synapse1
 No change
 NA
 Unreported
General locomotor activity1
 No change
 Open field test
 Unreported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 Unreported
Righting response1
 No change
 NA
 Unreported
Synapse density1
 No change
 Golgi-cox staining
 Unreported
Synapse density1
 No change
 Immunofluorescence staining
 Unreported
Synapse density1
 No change
 Electron microscopy
 Unreported
Synaptic transmission1
 No change
 Whole-cell patch clamp
 Unreported
Synaptic transmission1
 No change
 Whole-cell patch clamp
 Unreported
Olfaction1
 No change
 Olfactory habituation-dishabituation test
 Unreported
Inanimate object preference1
 No change
 Three-chamber social approach test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Immune response, Maternal behavior, Physiological parameters, Seizure

M_UBE3A_3_HT_M

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Clasping reflex3
Increased
Description: Increased clasping reflex and smaller forelimb angles due to forelimb flexion
Exp Paradigm: Tail suspension test
 Tail suspension test
 Unreported
Motor coordination and balance3
Decreased
Description: Decreased motor coordination demonstrated by shorter latency to fall
Exp Paradigm: Accelerating rotarod test
 Accelerating rotarod test
 Unreported
Gait3
Abnormal
Description: Abnormal gait characterized by large angle between left and right hind paw axes
Exp Paradigm: Gait analysis
 Footprint analysis
 Unreported
Brain cytoarchitecture1
Decreased
Description: Decreased number of pv-immunoreactive inhibitory interneurons in hippocampus
Exp Paradigm: Pv-immunohistochemical staining in dg of hippocampus
 Immunohistochemistry
 4 months
Synaptic transmission: inhibitory3
Abnormal
Description: Abnormal evoked ipsc indicated by normal paired-pulse ratio with faster decay rate
Exp Paradigm: Whole cell recordings in cerebellar granule cells
 Whole-cell patch clamp
 3-4 weeks
Neurotransmitter release: serotonin2
Increased
Description: Increased 5ht levels in frontal cortex and striatum
Exp Paradigm: High-performance liquid chromatography with electrochemical detection
 High-performance liquid chromatography with electrochemical detection (hplc-ec)
 12-15 weeks
Neurotransmitter release: catecholamines2
Increased
Description: Increased dopamine levels in frontal cortex
Exp Paradigm: High-performance liquid chromatography with electrochemical detection
 High-performance liquid chromatography with electrochemical detection (hplc-ec)
 12-15 weeks
Tonic currents through extrasynaptic receptors3
Decreased
Description: Decreased gabaa receptor mediated tonic currents
Exp Paradigm: Whole-cell voltage clamp recordings in cerebellar granule cells of acutely prepared cerebellar brain slices
 Whole-cell patch clamp
 3-4 weeks
Neuroreceptor activity3
Decreased
Description: Decreased gaba receptor activation demonstrated by reduced current with ambient gaba and no change with higher concentration
Exp Paradigm: NA
 Whole-cell patch clamp
 Unreported
Seizures4
Increased
Description: Audiogenic seizure in 18% of paternal deficiency mice in inbred 129/svev background.
Exp Paradigm: Audiogenic stimulus for seizure induction
 Audiogenic seizure test
 5-10 weeks
Anxiety1
Increased
Description: Increased anxiety demonstrated by more time spent in the dark compartment
Exp Paradigm: Light-dark exploration test
 Light-dark exploration test
 4 months
Anxiety1
Increased
Description: Increased anxiety demonstrated by more time and distance spent in the outer zone and also increased frequency of freezing
Exp Paradigm: Open field test
 Open field test
 4 months
Anxiety1
Increased
Description: Increased anxiety demonstrated by decreased preference for novel object
Exp Paradigm: Novel object exploration test
 Novel object recognition test
 4 months
Protein expression level evidence1
Decreased
Description: Decreased level of expression of sgk1 in cerebral cortex, hippocampus and cerebellum
Exp Paradigm: Sgk1 protein expression- immunohistochemistry: fluorescence
 Immunohistochemistry
 4 months
Protein expression level evidence1
Decreased
Description: Decreased ube3a expression in different parts of brain
Exp Paradigm: Ube3a protein expression-western blot
 Western blot
 4 months
Protein expression level evidence1
Decreased
Description: Decreased level of expression of sgk1 in amygdala
Exp Paradigm: Sgk1 protein expression
 Immunohistochemistry
 4 months
Protein expression level evidence2
Increased
Description: Increased hiaa, a major metabolite of 5ht levels in frontal cortex and striatum
Exp Paradigm: Hiaa levels
 High-performance liquid chromatography with electrochemical detection (hplc-ec)
 12-15 weeks
Protein expression level evidence1
Decreased
Description: Decreased ube3a expression in different parts of brain
Exp Paradigm: Ube3a protein expression- immunohistochemistry: fluorescence
 Immunohistochemistry
 4 months
Protein expression level evidence1
Abnormal
Description: Abnormal gr expression demonstrated by decreased levels in hippocampus and no change in both cerebral cortex and cerebellum
Exp Paradigm: Gr protein expression-western blot
 Western blot
 4 months
Protein expression level evidence3
Increased
Description: Increased gat1 protein concentration in cerebellum
Exp Paradigm: Gat1 protein concentration
 Western blot
 4-20 weeks
Protein expression level evidence1
Decreased
Description: Decreased level of expression of sgk1 in cerebral cortex, hippocampus and cerebellum
Exp Paradigm: Sgk1 protein expression-western blot
 Western blot
 4 months
Protein expression level evidence1
Abnormal
Description: Abnormal gr expression demonstrated by decreased levels in hippocampus and no change in both cerebral cortex and cerebellum
Exp Paradigm: Gr protein expression- immunohistochemistry: fluorescence
 Immunohistochemistry
 4 months
Protein expression level evidence2
Decreased
Description: Decreased ube3a protein expression in cerebellum and hippocampus
Exp Paradigm: Ube3a protein expression
 Western blot
 12-15 weeks
General characteristics4
 No change
 General observations
 P21
Size/growth4
 No change
 Body weight measurement
 P18
Protein expression level evidence1
 No change
 Immunohistochemistry
 4 months
Protein expression level evidence1
 No change
 Immunohistochemistry
 4 months
Regulation of gene expression4
 No change
 NA
 Unreported
Motor coordination and balance4
 No change
 Accelerating rotarod test
 8-12 weeks
Miniature post synaptic currents: inhibitory3
 No change
 Whole-cell patch clamp
 P25-p28
Bioactive compound levels: tetrahydrobiopterin2
 No change
 High-performance liquid chromatography with electrochemical detection (hplc-ec)
 12-15 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_UBE3A_10_CKO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Tonic currents through extrasynaptic receptors1
Decreased
Description: Tonic currents mediated by extrasynaptic delta subunit containing gabaa receptors (also sensitive to thip/gabazine) are decreased in mice lacking maternal ube3a from neocortical glutamatergic interneurons, authors note that these are the main mediators of tonic inhibition onto pyramidal neurons of layer 2-3 and this effect is cell-autonomous for glutamatergic cells lacking ube3a
Exp Paradigm: NA
 Whole-cell patch clamp
 2.6 months
Miniature post synaptic current amplitude: inhibitory1
Decreased
Description: Evoked miniature ipscs have decreased amplitude in the layer 2-3 pyramidal neurons of the visual cortex in cko mice lacking maternal ube3a in most neocortical glutamatergic interneurons,
Exp Paradigm: NA
 Whole-cell patch clamp
 2.6 months
Miniature post synaptic current frequency: inhibitory1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event amplitude: inhibitory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event frequency: inhibitory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Seizure threshold1
 No change
 Observation of chemically induced seizures
 2.6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_UBE3A_11_KO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic plasticity: synaptic recovery1
Decreased
Description: Synaptic recovery is also decreased and slower in mice lacking maternal ube3a from all neurons (ube3a stop/+)
Exp Paradigm: NA
 Whole-cell patch clamp
 2.6 months
Presynaptic function: vesicle recycling1
Decreased
Description: There is increased accumulation of clathrin-coated vesicles in the presynaptic terminals of mice lacking maternal ube3a from all neurons (ube3a stop/+), indicating reduced recycling mediated by the clathrin coated endocytic pathway
Exp Paradigm: NA
 Electron microscopy
 2.6 months
Miniature post synaptic current amplitude: inhibitory1
Decreased
Description: Evoked miniature ipscs have reduced amplitude in ube3a stop/p+ mice: mice lacking maternal ube3a from all neurons
Exp Paradigm: NA
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event amplitude: inhibitory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event frequency: inhibitory currents1
 No change
 Whole-cell patch clamp
 2.6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_UBE3A_13_KO_HE_MOSAIC

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Miniature post synaptic current amplitude: inhibitory1
Decreased
Description: Evoked ipscs have reduced amplitude in pyramidal neurons (l2-3) lacking ube3a (and positive for tdtomato) in mice injected with adeno-associated virus containing cre
Exp Paradigm: NA
 Whole-cell patch clamp
 2.6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_UBE3A_14_KO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Electroencephalogram (eeg) signature1
Increased
Description: Total spectral power is increased in mice lacking maternal ube3a from all neurons (ube3a stop/p+)measured by recording resting state local field potential or intracortical eeg
Exp Paradigm: NA
 Electroencephalogram (eeg)
 2.6 months
Seizure threshold1
Decreased
Description: Ube3a stop/p+ mice are much more susceptible to audiogenic seizures in frequency and latency compared to control littermates
Exp Paradigm: NA
 Observation of sensory-evoked seizures
 2.6 months
Mortality/lethality1
 No change
 General observations
 2.6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_UBE3A_15_CKO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Electroencephalogram (eeg) signature1
Increased
Description: Total spectral power is increased (authors note a trend) in mice lacking maternal ube3a from gabaergic neurons in 129s2/svpascrl background
Exp Paradigm: NA
 Resting state local field potential (lfp)
 2.6 months
Seizure threshold1
Decreased
Description: Mice lacking maternal ube3a from gabaergic neurons in 129s2/svpascrl background exhibit audiogenic seizures much more frequently than control littermates with an increased chance of progressing from wild running to tonic-clonic seizures
Exp Paradigm: NA
 Observation of sensory-evoked seizures
 2.6 months
Seizures1
Increased
Description: Spontaneous seizures are significantly increased in mice lacking maternal ube3a from gabaergic neurons in 129s2/svpascrl background
Exp Paradigm: NA
 Observation of seizures
 2.6 months
Mortality/lethality1
Increased
Description: Post-weaning lethality reached 15% in mice lacking ube3a from gabaergic neurons
Exp Paradigm: NA
 General observations
 2.6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_UBE3A_7_CKO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Presynaptic function: vesicle recycling1
Decreased
Description: There is increased accumulation of clathrin-coated vesicles in the presynaptic terminals of gabaergic interneurons in cko mice lacking maternal ube3a from gabaergic interneurons indicating deficient recycling of synaptic vesicles from the clathrin dependent endocytic pathway
Exp Paradigm: NA
 Electron microscopy
 2.6 months
Electroencephalogram (eeg) signature1
Increased
Description: Total spectral power is increased in cko mice lacking maternal ube3a gabaergic neurons measured by recording resting state local field potential or intracortical eeg
Exp Paradigm: Electroencephalogram (eeg)
 NA
 2.6 months
Seizure threshold1
Decreased
Description: A significant decrease in the latency to myoclonic and generalized seizures induced by flurothyl is observed in mice lacking maternal ube3a from gabaergic interneurons
Exp Paradigm: NA
 Observation of chemically induced seizures
 2.6 months
Targeted expression1
Decreased
Description: Ube3a is selectively lost in almost all gabaaergic interneurons in the primary visual cortex, sparing layer 2-4 cux1 positive cells
Exp Paradigm: NA
 Immunohistochemistry
 2.6 months
Neuronal number: interneurons1
 No change
 NA
 2.6 months
Synaptic morphology1
 No change
 Electron microscopy
 2.6 months
Miniature post synaptic current amplitude: inhibitory1
 No change
 NA
 2.6 months
Presynaptic function: paired-pulse facilitation1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event amplitude: excitatory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event amplitude: inhibitory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event frequency: excitatory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event frequency: inhibitory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Synaptic plasticity: synaptic recovery1
 No change
 Whole-cell patch clamp
 2.6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_UBE3A_8_CKO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Spontaneous post synaptic event amplitude: inhibitory currents1
Decreased
Description: Spontaneous miniature ipscs have decreased amplitude in layer 2-3 pyramidal neurons of the visual cortex in cko mice lacking maternal ube3a in the nervous system
Exp Paradigm: NA
 Whole-cell patch clamp
 2.6 months
Presynaptic function: vesicle recycling1
Decreased
Description: There is increased accumulation of clathrin-coated vesicles in the presynaptic terminals of gabaergic interneurons in cko mice lacking ube3a in the nervous system indicating deficient recycling of synaptic vesicles from the clathrin dependent endocytic pathway
Exp Paradigm: NA
 Electron microscopy
 2.6 months
Miniature post synaptic current amplitude: inhibitory1
Decreased
Description: Evoked miniature ipscs have decreased amplitude in the layer 2-3 pyramidal neurons of the visual cortex in cko mice lacking maternal ube3a in the nervous system
Exp Paradigm: Whole-cell patch clamp: layer 2-3 pyramidal neurons of visual cortex
 NA
 2.6 months
Spontaneous post synaptic event frequency: inhibitory currents1
Decreased
Description: Spontaneous miniature ipscs have decreased frequency in layer 2-3 pyramidal neurons of the visual cortex in cko mice lacking maternal ube3a in the nervous system
Exp Paradigm: NA
 Whole-cell patch clamp
 2.6 months
Neuronal number: interneurons1
 No change
 NA
 2.6 months
Presynaptic function: paired-pulse facilitation1
 No change
 Whole-cell patch clamp
 2.6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_UBE3A_9_CKO_HE

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Miniature post synaptic current amplitude: inhibitory1
Decreased
Description: Evoked miniature ipscs have decreased amplitude in the layer 2-3 pyramidal neurons of the visual cortex in cko mice lacking maternal ube3a in most glutamatergic, cux1 positive interneurons and all other neurons except gabaergic interneurons where they are reinstated, authors note that the difference is not statistically significant but still draw some conclusions on the role of glutamatergic neurons vs gabaergic neurons in these mice
Exp Paradigm: Whole-cell patch clamp: layer 2-3 pyramidal neurons of visual cortex
 NA
 2.6 months
Intrinsic membrane properties1
 No change
 NA
 2.6 months
Presynaptic function: paired-pulse facilitation1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event amplitude: excitatory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event amplitude: inhibitory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event frequency: excitatory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Spontaneous post synaptic event frequency: inhibitory currents1
 No change
 Whole-cell patch clamp
 2.6 months
Synaptic plasticity: synaptic recovery1
 No change
 Whole-cell patch clamp
 2.6 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_UBE3A_16_HT_M-P+

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Ultrasonic vocalization: interaction induced1
Increased
Description: Ube3a hemizygous mice produce increased number of usv calls during social interaction with genotype matched mice
Exp Paradigm: NA
 Monitoring ultrasonic vocalizations
 7-11 weeks
Gene expression1
Increased
Description: Increased expression of cbln1 gene is observed in cortical samples in ube3a hemizygous mice
Exp Paradigm: NA
 Quantitative pcr (qrt-pcr)
 7-11 weeks
Social approach1
 No change
 Three-chamber social approach test
 7-11 weeks
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_UBE3A_17_HM_TG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Self grooming: perseveration1
Increased
Description: Ube3a 2x mice display increased grooming behavior compared to wt controls
Exp Paradigm: NA
 Grooming behavior assessments
 7-11 weeks
Social interaction1
Decreased
Description: Ube3a 2x mice have decreased time in contact during the reciprocal interaction test where they were also tested for vocalizations
Exp Paradigm: NA
 Reciprocal social interaction test
 7-11 weeks
Social approach1
Decreased
Description: Ube3a 2x mice have impaired social approach in the three chamber social approach test
Exp Paradigm: NA
 Three-chamber social approach test
 7-11 weeks
Ultrasonic vocalization: interaction induced1
Decreased
Description: Ube3a 2x mice have reduced usv during reciprocal social interaction with a genotype-matched pair, compared to wt pairs
Exp Paradigm: NA
 Monitoring ultrasonic vocalizations
 7-11 weeks
Gene expression1
Decreased
Description: Several genes display reduced expression of cbln1, homer 3 and pax 6
Exp Paradigm: NA
 Quantitative pcr (qrt-pcr)
 NA
Gene expression1
Increased
Description: Autism related genes: homer 1, homer 2 and kcn4 show reduced expression in the brain lysates in ube3a 2x mice
Exp Paradigm: NA
 Quantitative pcr (qrt-pcr)
 NA
Targeted expression1
Increased
Description: Mutant mice, designated as ube3a 2x homozygous for ube3a transgene express times the level of ube3a expressed by wild type mice
Exp Paradigm: NA
 Western blot
 NA
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Sensory

M_UBE3A_17_HT_TG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Targeted expression1
Increased
Description: Expression of ube3a is 1.5 fold increased in ube3a heterozygous transgenic mice compared to wild type
Exp Paradigm: NA
 Quantitative pcr (qrt-pcr)
 7-11 weeks
Gene expression1
Decreased
Description: Expression of cbln1 gene is reduced in ube3a 1x
Exp Paradigm: NA
 Quantitative pcr (qrt-pcr)
 7-11 weeks
Ultrasonic vocalization: interaction induced1
 No change
 Monitoring ultrasonic vocalizations
 7-11 weeks
Social approach1
 No change
 Three-chamber social approach test
 7-11 weeks
Social interaction1
 No change
 Reciprocal social interaction test
 7-11 weeks
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_UBE3A_17_HT_TG_IN_PTZ

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
Decreased
Description: Ube3a 1x (expressing increased ube3a) mice treated with 5 injections of ptz display impaired social approach, 24 hrs after last treatment
Exp Paradigm: NA
 Three-chamber social approach test
 7-11 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_UBE3A_18_HT_TG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social interaction1
Decreased
Description: Ube3a nls mice spend less time in contact with the paired mouse during reciprocal interaction test, during which the vocalizations were also tested
Exp Paradigm: NA
 Reciprocal social interaction test
 7-11 weeks
Social approach1
Decreased
Description: Ube3a nls mice have impaired social approach in the three chamber social approach test and spend less time with stimulus mouse than the empty chamber
Exp Paradigm: NA
 Three-chamber social approach test
 7-11 weeks
Ultrasonic vocalization: interaction induced1
Decreased
Description: Ube3a nls mice have reduced usv during reciprocal so 7-11 weeks female only
Exp Paradigm: NA
 Monitoring ultrasonic vocalizations
 7-11 weeks
Anxiety1
Increased
Description: Ube3a nls mice display increased anxiety and spend a significantly less amount of time in the open arms of the elevated plus maze compared to wt
Exp Paradigm: NA
 Elevated plus maze test
 7-11 weeks
Gene expression1
Decreased
Description: Reduced expression of cbln1 gene is observed in cortical samples from ube3a nls mice
Exp Paradigm: NA
 Quantitative pcr (qrt-pcr)
 7-11 weeks
General locomotor activity: ambulatory activity1
 No change
 Open field test
 7-11 weeks
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 7-11 weeks
Olfaction1
 No change
 Buried food test
 7-11 weeks
 Not Reported: Circadian sleep/wake cycle, Developmental profile, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure

M_UBE3A_19_CKI_IN_PTZ

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
Decreased
Description: Impaired social approach is observed after combination of increased expression of ube3a selectively in slc6a3 (dopamine transporter) positive neurons and induction of seizures in mice, indicating the role of ube3a in slc6a3 positive cells in causing increased susceptibility to social impairment
Exp Paradigm: NA
 Three-chamber social approach test
 7-11 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_UBE3A_20_CKI_IN_PTZ

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
Decreased
Description: Impaired social approach is observed after combination of increased expression of ube3a selectively in vglut2 positive neurons and induction of seizures in mice, indicating the role of ube3a in vglut2 positive cells in causing increased susceptibility to social impairment
Exp Paradigm: NA
 Three-chamber social approach test
 7-11 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_UBE3A_21_CKI_IN_PTZ

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
Decreased
Description: Increased expression of ube3a (human isoform 3) via expression from a viral vector stereotaxically injected into the ventral tegmental area (vta) in addition to ptz treatment impaired social approach in mice (whereas increasing ube3a expression in vta only did not lead to this impairment)
Exp Paradigm: NA
 Three-chamber social approach test
 7-11 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_UBE3A_2_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Limb posture1
Abnormal
Description: Abnormal posture
Exp Paradigm: NA
 General observations
 Unreported
Limb posture1
Abnormal
Description: Abnormal hindlimb clasping
Exp Paradigm: General observations
 Tail suspension test
 Unreported
Seizures1
Increased
Description: Increased frequency of inducible audiogenic seizure
Exp Paradigm: Audiogenic stimulus for seizure induction
 Audiogenic seizure test
 5-10 weeks
Reproductive system development1
Decreased
Description: Reduced litter size
Exp Paradigm: General observations
 General observations
 P0
Reproductive system development1
Decreased
Description: Reduced fertility
Exp Paradigm: Males and females
 General observations
 Adult
Mortality/lethality1
Increased
Description: Increased postnatal lethality
Exp Paradigm: General observations
 General observations
 P0-p18
Size/growth1
Decreased
Description: Growth retardation during postnatal development
Exp Paradigm: General observations
 Body weight measurement
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory, Social behavior

M_UBE3A_3_HT_M+P-

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Motor coordination and balance1
 No change
 Accelerating rotarod test
 8-12 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 172 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
AHSP alpha hemoglobin stabilizing protein 51327 Q549J4 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ANKZF1 ankyrin repeat and zinc finger domain containing 1 55139 Q9H8Y5 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ANXA1 annexin A1 301 P04083 GST; MS; IP/WB
Shimoji T , et al. 2009
AR androgen receptor 367 P10275 Luciferase reporter assay
Nawaz Z , et al. 1999
ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 55616 Q8TDY4 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ATG9A autophagy related 9A 79065 Q7Z3C6 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BCKDK branched chain ketoacid dehydrogenase kinase 10295 A8MY43 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
BMAL1 Aryl hydrocarbon receptor nuclear translocator-like protein 1 406 O00327 Fluorescence Polarization (FP)
Gossan NC , et al. 2014
BMPR1A bone morphogenetic protein receptor, type IA 657 P36894 IP/WB; In vivo ubiquitination assay
Li W , et al. 2016
BOLA2 bolA homolog 2 (E. coli) 552900 Q9H3K6 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
BPY2 basic charge, Y-linked, 2 9083 O14599 Y2H; IP/WB
Wong EY , et al. 2002
CALM1 calmodulin 1 (phosphorylase kinase, delta) 801 P62158 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
CAPN3 calpain 3, (p94) 825 P20807 Y2H
Sakai Y , et al. 2011
CELA2B Chymotrypsin-like elastase family member 2B 51032 P08218 IP; LC-MS/MS
Huttlin EL , et al. 2015
CENPF centromere protein F, 350/400kDa (mitosin) 1063 P49454 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
CEP170 centrosomal protein 170kDa 9859 Q5SW79 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
CEP97 centrosomal protein 97kDa 79598 Q8IW35 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
COPS7B COP9 signalosome subunit 7B 64708 Q9H9Q2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CP110 centriolar coiled coil protein 110kDa 9738 B4DTZ1 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
DERA deoxyribose-phosphate aldolase (putative) 51071 Q9Y315 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
DLG1 discs, large homolog 1 (Drosophila) 1739 Q12959 in vitro ubiquitination assay; WB; GST
Matsumoto Y , et al. 2006
EAPP E2F-associated phosphoprotein 55837 Q56P03 Y2H
Lim J , et al. 2006
ECH1 enoyl CoA hydratase 1, peroxisomal 1891 Q13011 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ECI2 enoyl-CoA delta isomerase 2 10455 O75521 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ECT2 epithelial cell transforming sequence 2 oncogene 1894 Q9H8V3 IP/WB
Reiter LT , et al. 2006
EIF3C eukaryotic translation initiation factor 3, subunit C 8663 Q99613 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
EIF3D eukaryotic translation initiation factor 3, subunit D 8664 O15371 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
EIF3E eukaryotic translation initiation factor 3, subunit E 3646 P60228 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
EML1 echinoderm microtubule associated protein like 1 2009 O00423 Y2H
Sakai Y , et al. 2011
ERCC6L2 excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 375748 Q5T890 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ESR1 estrogen receptor 1 2099 P03372 IP/WB; WB
Li L , et al. 2005
FAM167A family with sequence similarity 167, member A 83648 Q96KS9 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FTH1 ferritin, heavy polypeptide 1 2495 P02794 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
FUZ fuzzy planar cell polarity protein 80199 Q9BT04 IP; LC-MS/MS
Huttlin EL , et al. 2015
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa 2965 P32780 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 8924 A8KAQ8 IP; MS; COMPASS; IP/WB
Martnez-Nol G , et al. 2012
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 55662 Q9NWT6 IP; MS; COMPASS; IP/WB
Martnez-Nol G , et al. 2012
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 55662 Q9NWT6 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIST1H2AB histone cluster 1, H2ab 8335 P04908 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
HIST1H2BK histone cluster 1, H2bk 85236 O60814 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
HIST1H4A histone cluster 1, H4a 8359 B2R4R0 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
HTRA1 HtrA serine peptidase 1 5654 Q92743 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
Kcnn2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 140492 P58390 IP/WB; in vitro ubiquitination assay; Co-localization
Sun J , et al. 2015
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 10945 P24390 IP; LC-MS/MS
Huttlin EL , et al. 2015
KDM2A lysine (K)-specific demethylase 2A 22992 D4QA03 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
KLHL38 kelch-like family member 38 340359 Q2WGJ6 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
KTN1 kinectin 1 (kinesin receptor) 3895 Q5GGW3 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
LAMC1 laminin, gamma 1 (formerly LAMB2) 3915 P11047 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
LCK lymphocyte-specific protein tyrosine kinase 3932 P06239 Y2H; GST
Oda H , et al. 1999
MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 4100 P43355 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAGEA8 melanoma antigen family A8 4107 B2R9W4 Y2H
Corominas R , et al. 2014
MAP7D1 MAP7 domain containing 1 55700 Q3KQU3 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MAP7D2 MAP7 domain containing 2 256714 Q96T17 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAP9 microtubule-associated protein 9 79884 Q05CN5 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MAPK10 mitogen-activated protein kinase 10 5602 P53779 Y2H
Sakai Y , et al. 2011
MAPK6 mitogen-activated protein kinase 6 5597 Q16659 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5 8550 Q8IW41 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MCM6 minichromosome maintenance complex component 6 4175 Q14566 Y2H; GST
Sakai Y , et al. 2011
MCM7 minichromosome maintenance complex component 7 4176 P33993 GST; IP/WB; WB
Khne C and Banks L 1998
MEOX2 Homeobox protein MOX-2 4223 P50222 Y2H
Corominas R , et al. 2014
MID1IP1 MID1 interacting protein 1 58526 Q9NPA3 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
miR-134 microRNA 134 406924 N/A Luciferase reporter assay; IP/WB
Valluy J , et al. 2015
MTAP methylthioadenosine phosphorylase 4507 Q13126 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
MTUS1 microtubule associated tumor suppressor 1 57509 Q9ULD2 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
NCOA3 nuclear receptor coactivator 3 8202 Q9Y6Q9 IP/WB; WB; GST
Mani A , et al. 2006
NEURL4 neuralized homolog 4 (Drosophila) 84461 Q96JN8 IP; MS; COMPASS; IP/WB
Martnez-Nol G , et al. 2012
NSUN2 NOP2/Sun RNA methyltransferase family, member 2 54888 Q08J23 IP; LC-MS/MS
Huttlin EL , et al. 2015
OBSL1 obscurin-like 1 23363 O75147 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PGR progesterone receptor 5241 P06401 Y2H; GST; Luciferase reporter assay
Nawaz Z , et al. 1999
PHF17 PHD finger protein 17 79960 Q6IE81 Y2H
Lim J , et al. 2006
PHF17 PHD finger protein 17 79960 Q6IE81 Y2H
Corominas R , et al. 2014
PIPSL PIP5K1A and PSMD4-like, pseudogene 266971 A2A3N6 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PLAUR plasminogen activator, urokinase receptor 5329 Q03405 IP; LC-MS/MS
Huttlin EL , et al. 2015
Ppara peroxisome proliferator activated receptor alpha 25747 P37230 Luciferase reporter assay; M2H
Gopinathan L , et al. 2008
PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 5682 P25786 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 5683 P25787 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA3 proteasome (prosome, macropain) subunit, alpha type, 3 5684 P25788 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 5685 P25789 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 5686 B4E2V4 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 5687 P60900 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 5689 P20618 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB2 proteasome (prosome, macropain) subunit, beta type, 2 5690 B7Z478 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB3 proteasome (prosome, macropain) subunit, beta type, 3 5691 P49720 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB4 proteasome (prosome, macropain) subunit, beta type, 4 5692 P28070 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB5 proteasome (prosome, macropain) subunit, beta type, 5 5693 E9PAV2 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB6 proteasome (prosome, macropain) subunit, beta type, 6 5694 P28072 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMB7 proteasome (prosome, macropain) subunit, beta type, 7 5695 E9KL30 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 5700 P62191 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC2 proteasome (prosome, macropain) 26S subunit, ATPase, 2 5701 B7Z571 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 5702 P17980 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 5704 A8K2M0 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 5705 P62195 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 5706 P62333 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 5716 O75832 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 5717 O00231 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 5719 Q9UNM6 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 10213 O00487 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 5708 Q13200 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 5709 O43242 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 5710 P55036 Y2H; GST
Sakai Y , et al. 2011
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 5710 P55036 in vitro ubiquitination assay
Yi JJ , et al. 2015
PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 9861 Q15008 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 5713 P51665 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 5714 P48556 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PSME4 proteasome (prosome, macropain) activator subunit 4 23198 Q14997 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
PTPN2 protein tyrosine phosphatase, non-receptor type 2 5771 P17706 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
RAD23A RAD23 homolog A (S. cerevisiae) 5886 P54725 Y2H; GST; in vitro ubiquitination assay
Kumar S , et al. 1999
RAD23A RAD23 homolog A (S. cerevisiae) 5886 P54725 In vivo ubiquitination assay
Yi JJ , et al. 2015
RAD23B RAD23 homolog B (S. cerevisiae) 5887 P54727 GST; in vitro ubiquitination assay
Kumar S , et al. 1999
RAN RAN, member RAS oncogene family 5901 A8K3Z8 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
RARA retinoic acid receptor, alpha 5914 P10276 Y2H
Lim J , et al. 2006
RYR1 ryanodine receptor 1 (skeletal) 6261 P21817 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SCAMP1 secretory carrier membrane protein 1 9522 O15126 Y2H
Lim J , et al. 2006
SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) 9997 O43819 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SCRIB scribbled homolog (Drosophila) 23513 Q14160 GST; MS; in vitro ubiquitination assay
Nakagawa S and Huibregtse JM 2000
SERHL2 Serine hydrolase-like protein 2 253190 Q9H4I8 IP; LC-MS/MS
Huttlin EL , et al. 2015
SHBG sex hormone-binding globulin 6462 P04278 Y2H
Pope SN and Lee IR 2005
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 6576 D9HTE9 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 8604 O75746 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SMAD9 SMAD family member 9 4093 O15198 Y2H
Colland F , et al. 2004
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 6601 Q8TAQ2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SRPRB signal recognition particle receptor, B subunit 58477 Q549N5 IP; LC-MS/MS
Huttlin EL , et al. 2015
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1 10534 O60232 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
SUGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 10910 Q9Y2Z0 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
TAT tyrosine aminotransferase 6898 P17735 Y2H
Corominas R , et al. 2014
TAT tyrosine aminotransferase 6898 P17735 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TIMP2 TIMP metallopeptidase inhibitor 2 7077 P16035 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
tkv thickveins 33753 Q7KTP1 in vitro ubiquitination assay; In vivo ubiquitination assay
IP/WB; Co-localization; in vitro ubiquitination assay; In vivo ubiquitination assay
Li W , et al. 2016
TMCO7 transmembrane and coiled-coil domains 7 79613 Q9C0B7 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TP53 tumor protein p53 7157 P04637 GST
Scheffner M , et al. 1993
TRPV5 Transient receptor potential cation channel subfamily V member 5 56302 E9PBZ6 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSC2 tuberous sclerosis 2 7249 P49815 IP/WB; WB; GST
Zheng L , et al. 2008
TXNL1 thioredoxin-like 1 9352 O43396 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
UBB ubiquitin B 7314 P0CG47 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
UBE2D1 ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) 7321 P51668 Ubiquitin thioester complex formation assay
Nuber U , et al. 1996
UBE2D2 ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast) 7322 P62837 GST
Hatakeyama S , et al. 1997
UBE2D3 ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) 7323 P61077 Ubiquitin thioester complex formation assay
Anan T , et al. 1999
UBE2L3 ubiquitin-conjugating enzyme E2L 3 7332 P68036 X-ray crystallography
Huang L , et al. 1999
UBE2L6 ubiquitin-conjugating enzyme E2L 6 9246 O14933 Y2H; Ubiquitin thioester complex formation assay
Kumar S , et al. 1997
UBE3A ubiquitin protein ligase E3A 7337 Q05086 In vivo ubiquitination assay
Yi JJ , et al. 2015
UBE3C ubiquitin protein ligase E3C 9690 Q15386 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
UBQLN1 ubiquilin 1 29979 Q9UMX0 Y2H; IP/WB
Kleijnen MF , et al. 2000
UBQLN2 ubiquilin 2 29978 Q9UHD9 Y2H; IP/WB
Kleijnen MF , et al. 2000
UCHL5 ubiquitin carboxyl-terminal hydrolase L5 51377 Q9Y5K5 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
UCHL5 ubiquitin carboxyl-terminal hydrolase L5 51377 Q9Y5K5 IP; LC-MS/MS
Huttlin EL , et al. 2015
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 9097 A6NJA2 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
USP16 ubiquitin specific peptidase 16 10600 Q9Y5T5 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ZFAND5 zinc finger, AN1-type domain 5 7763 O76080 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ZFAND6 zinc finger, AN1-type domain 6 54469 Q6FIF0 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
ZFP106 zinc finger protein 106 homolog (mouse) 64397 Q9H2Y7 IP; MS; COMPASS
Martnez-Nol G , et al. 2012
Arc activity regulated cytoskeletal-associated protein 11838 Q9WV31 GST; in vitro ubiquitination assay; WB
Greer PL , et al. 2010
Arhgef15 Rho guanine nucleotide exchange factor (GEF) 15 442801 Q5FWH6 IP/WB; WB
Margolis SS , et al. 2010
Blk B lymphoid kinase 12143 P16277 GST; IP/WB; in vitro ubiquitination assay
Oda H , et al. 1999
Esr2 estrogen receptor 2 (beta) 13983 O08537 IP/WB; WB
Picard N , et al. 2007
Prkaca protein kinase, cAMP dependent, catalytic, alpha 18747 P05132 IP/WB; in vitro kinase assay
Yi JJ , et al. 2015
Mir134 microRNA 134 100314191 Luciferase reporter assay
Valluy J , et al. 2015
Mir485 microRNA 485 100314086 Luciferase reporter assay
Valluy J , et al. 2015
Mir758 microRNA 758 100314176 Luciferase reporter assay
Valluy J , et al. 2015
CG8209 38888 Q9VSC5 IP/WB
Lee SY , et al. 2013
Rpn10 26S proteasome non-ATPase regulatory subunit 4 40388 P55035 IP/WB
Lee SY , et al. 2013
Uch-L5 Ubiquitin C-terminal hydrolase 39102 Q9XZ61 IP/WB
Lee SY , et al. 2013

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