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Relevance to Autism

Several studies have found genetic association and rare variants in the DISC1 gene that are associated with autism. Positive associations have been found in the Chinese Han population and in the Finnish population (for both autism and Asperger syndrome; Kilpinen et al., 2008). In addition, genetic association between DISC1 and a psychosis phenotype was found in a Finnish sample, and association with schizophrenia and bipolar disorder was found in some European cohorts.

Molecular Function

This gene encodes a protein with multiple coiled coil motifs and is involved in neurite outgrowth and cortical development through its interaction with other proteins.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of DISC1 with autism and Asperger syndrome.
ASD
Asperger syndrome
Positive Association
708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.
MDD
SCZ, BPD
Positive Association
Evidence for association between Disrupted-in-Schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based assoc...
ASD
Support
A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.
ASD, SCZ
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
DISC1 duplication in two brothers with autism and mild mental retardation.
ASD
MR
Highly Cited
DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling.
Highly Cited
DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of ...
Recent Recommendation
DISC1 causes associative memory and neurodevelopmental defects in fruit flies.
Recent Recommendation
Roles of disrupted-in-schizophrenia 1-interacting protein girdin in postnatal development of the dentate gyrus.
Recent Recommendation
DISC1 (disrupted-in-schizophrenia-1) regulates differentiation of oligodendrocytes.
Recent Recommendation
Behavioral phenotypes of Disc1 missense mutations in mice.
Recent Recommendation
Missense mutation in DISC1 C-terminal coiled-coil has GSK3 signaling and sex-dependent behavioral effects in mice.
Recent Recommendation
Association studies and gene expression analyses of the DISC1-interacting molecules, pericentrin 2 (PCNT2) and DISC1-binding zinc finger protein (D...
Recent Recommendation
mTOR Inhibition ameliorates cognitive and affective deficits caused by Disc1 knockdown in adult-born dentate granule neurons.
Recent Recommendation
Early postnatal GABAA receptor modulation reverses deficits in neuronal maturation in a conditional neurodevelopmental mouse model of DISC1.
Recent Recommendation
Association of variants in DISC1 with psychosis-related traits in a large population cohort.
Recent Recommendation
Interplay between DISC1 and GABA signaling regulates neurogenesis in mice and risk for schizophrenia.
Recent Recommendation
DISC1-dependent Regulation of Mitochondrial Dynamics Controls the Morphogenesis of Complex Neuronal Dendrites.
Recent Recommendation
Replication study of candidate genes for cognitive abilities: the Lothian Birth Cohort 1936.
Recent Recommendation
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex.
Recent Recommendation
The cortical thickness phenotype of individuals with DISC1 translocation resembles schizophrenia.
Recent Recommendation
Nuclear DISC1 regulates CRE-mediated gene transcription and sleep homeostasis in the fruit fly.
Recent Recommendation
DISC1 regulates lactate metabolism in astrocytes: implications for psychiatric disorders.
Recent Recommendation
Knockdown of DISC1 by in utero gene transfer disturbs postnatal dopaminergic maturation in the frontal cortex and leads to adult behavioral deficits.
Recent Recommendation
Genomic DISC1 Disruption in hiPSCs Alters Wnt Signaling and Neural Cell Fate.
Recent Recommendation
DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder.
SCZ, BPD
Recent Recommendation
Shared effects of DISC1 disruption and elevated WNT signaling in human cerebral organoids.
Recent Recommendation
Disrupted-in-Schizophrenia 1 (DISC1) regulates spines of the glutamate synapse via Rac1.
Recent Recommendation
Disrupted-in-schizophrenia 1 regulates transport of ITPR1 mRNA for synaptic plasticity.
Recent Recommendation
Disrupted-In-Schizophrenia 1 regulates integration of newly generated neurons in the adult brain.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN065R001 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN065R002 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN065R003 
 missense_variant 
 c.1819C>T 
 p.Leu607Phe 
 Familial 
 Paternal 
 Simplex 
 GEN065R004 
 missense_variant 
 c.1981G>A 
 p.Glu661Lys 
 Familial 
 Paternal 
 Simplex 
 GEN065R005 
 missense_variant 
 c.112C>T 
 p.Arg38Trp 
 De novo 
  
 Simplex 
 GEN065R006 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN065R007 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN065R008 
 missense_variant 
 c.109C>T 
 p.Arg37Trp 
 Familial 
 Maternal 
 Multiplex 
 GEN065R009 
 missense_variant 
 c.248C>T 
 p.Ala83Val 
 Unknown 
  
 Unknown 
 GEN065R010 
 missense_variant 
 c.479G>T 
 p.Trp160Leu 
 Unknown 
  
 Unknown 
 GEN065R011 
 missense_variant 
 c.698G>A 
 p.Arg233Lys 
 Familial 
 Maternal 
 Simplex 
 GEN065R012 
 missense_variant 
 c.1253G>A 
 p.Arg418His 
 Unknown 
  
 Unknown 
 GEN065R013 
 synonymous_variant 
 c.348G>A 
 p.Ala116= 
 Familial (1 case), Unknown (1 case) 
 Paternal (1 case) 
 Multi-generational (1 case), unknown (1 case) 
 GEN065R014 
 synonymous_variant 
 c.816G>A 
 p.Arg272= 
 Familial 
 Paternal 
 Multiplex 
 GEN065R015 
 frameshift_variant 
 c.2220del 
 p.Asp740GlufsTer7 
 Unknown 
  
 Unknown 
 GEN065R016 
 missense_variant 
 c.1880C>G 
 p.Ala627Gly 
 De novo 
  
 Simplex 
 GEN065R017 
 missense_variant 
 c.991A>G 
 p.Arg331Gly 
 De novo 
  
  
 GEN065R018 
 splice_site_variant 
 c.2241+68T>G 
  
 De novo 
  
  
 GEN065R019 
 frameshift_variant 
 c.2358_2359+2del 
  
 Familial 
 Maternal 
 Multiplex 
 GEN065R020 
 frameshift_variant 
 c.2358_2359+2del 
  
 Familial 
 Paternal 
 Multiplex 
 GEN065R021 
 frameshift_variant 
 c.2358_2359+2del 
  
 Familial 
 Maternal 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN065C001 
 intron_variant 
 rs1322784 
 c.1635-2053G>A;c.1731-2053G>A;c.1269-2053G>A;c.1634+22119G>A;c.584+22119G>A 
  
 Finnish 
 Discovery 
 GEN065C002 
 intron_variant, microsatellite 
  
  
  
 Finnish 
 Discovery 
 GEN065C003 
 missense_variant, 3_prime_UTR_variant 
 rs821616 
 c.2110A>T;c.2206A>T;c.1744A>T;c.2049A>T;c.*83A>T 
 p.Ser704Cys;p.Ser736Cys;p.Ser582Cys;p.Arg683Ser 
 Finnish 
 Discovery 
 GEN065C004 
 intron_variant 
 rs4366301 
 c.68-23286G>C;c.67+43606G>C 
 C/G 
 Chinese Han 
 Discovery 
 GEN065C005 
 intron_variant 
 rs11585959 
 c.1047+3167T>C;c.68-51954T>C 
 C/T 
 Chinese Han 
 Discovery 
 GEN065C006 
 intron_variant 
 rs6668845 
 c.1981+54284A>G;c.2077+54284A>G;c.1615+54284A>G;c.1635-86027A>G 
  
 Chinese Han 
 Discovery 
 GEN065C007 
 intron_variant 
 rs821577 
 c.1982-27517T>G;c.2078-27517T>G;c.1616-27517T>G;c.1982-77474T>G;c.1635-27517T>G 
 N/A 
 Finnish 
 Discovery 
 GEN065C008 
 intron_variant 
 rs11122381 
 c.1982-467A>G;c.2078-467A>G;c.1616-467A>G;c.1982-50424A>G;c.1635-467A>G 
  
 Finnish 
 Discovery 
 GEN065C009 
 intron_variant 
 rs821592 
 c.1982-315G>A;c.2078-315G>A;c.1616-315G>A;c.1982-50272G>A;c.1635-315G>A 
 N/A 
 Finnish 
 Discovery 
 GEN065C010 
 intron_variant 
 rs1538979 
 c.1269-6018C>T;c.1365-6018C>T;c.1268+11046C>T;c.219-6018C>T 
 T/C 
 Finnish 
 Discovery 
 GEN065C011 
 intron_variant 
 rs821577 
 c.1982-27517T>G;c.2078-27517T>G;c.1616-27517T>G;c.1982-77474T>G;c.1635-27517T>G 
 G/T 
 London 
 Discovery 
 GEN065C012 
 missense_variant 
 rs6675281 
 c.1819C>T;c.1915C>T;c.1453C>T;c.1716C>T;c.1634+47285C>T;c.*5C>T 
 p.Leu607Phe 
 Edinburgh 
 Replication 
 GEN065C013 
 intron_variant 
 rs1322784 
 c.1635-2053G>A;c.1731-2053G>A;c.1269-2053G>A;c.1634+22119G>A;c.584+22119G>A 
  
 Finnish 
 Replication 
 GEN065C014 
 intron_variant 
 rs1322784 
 c.1635-2053G>A;c.1731-2053G>A;c.1269-2053G>A;c.1634+22119G>A;c.584+22119G>A 
  
 London 
 Replication 
 GEN065C015 
 intron_variant 
 rs16856199 
 c.2242-8069T>A;c.2404-8069T>A;c.1942-8069T>A;c.2308-8069T>A 
  
 Scotland: 192 cases with recurrent major depressive disorder (rMDD), 889 controls 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Duplication
 44
 
1
Duplication
 1
 
1
Duplication
 1
 
1
Duplication
 2
 
1
Duplication
 1
 
1
Deletion
 7
 
1
Deletion
 2
 
1
Deletion-Duplication
 20
 

Model Summary

Model provides insight into how DISC1 variation contributes to schizophrenia susceptibility in humans and have implications for modeling psychiatric diseases in mice.

References

Type
Title
Author, Year
Primary
Disc1 is mutated in the 129S6/SvEv strain and modulates working memory in mice.
Additional
Behavioral phenotypes of Disc1 missense mutations in mice.
Additional
Dominant-negative DISC1 transgenic mice display schizophrenia-associated phenotypes detected by measures translatable to humans.
Additional
Inducible expression of mutant human DISC1 in mice is associated with brain and behavioral abnormalities reminiscent of schizophrenia.
Additional
Specific developmental disruption of disrupted-in-schizophrenia-1 function results in schizophrenia-related phenotypes in mice.
Additional
A mutation in mouse Disc1 that models a schizophrenia risk allele leads to specific alterations in neuronal architecture and cognition.
Additional
Repetitive and compulsive-like behaviors lead to cognitive dysfunction in Disc12-3/2-3 mice.

M_DISC1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: 25 bp deletion induces a frameshift in the reading frame leading to 13 novel amino acids leading to premature stop codon in exon 7 of the Disc1 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: 25 bp deletion induces a frameshift in the reading frame leading to 13 novel amino acids leading to premature stop codon in exon 7 of the Disc1 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_3_Q31L_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: 127A-T transversion in exon 2 of Disc1 gene resulting in amino acid exchange Q31L caused by 1686 ENU mutagenesis.
Allele Type: Spontaenous Mutation (Transversion)
Strain of Origin: C57BL/6JJcI
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_4_Q31L_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: 127A-T transversion in exon 2 of Disc1 gene resulting in amino acid exchange Q31L caused by 1686 ENU mutagenesis.
Allele Type: Spontaenous Mutation (Transversion)
Strain of Origin: C57BL/6JJcI
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_5_L100P_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: 334T-C transition in exon 2 of Disc1 gene resulting in amino acid exchange L100P caused by 1686 ENU mutagenesis.
Allele Type: Spontaenous Mutation (Transition)
Strain of Origin: C57BL/6JJcI
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_6_L100P_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: 334T-C transition in exon 2 of Disc1 gene resulting in amino acid exchange L100P caused by 1686 ENU mutagenesis.
Allele Type: Spontaenous Mutation (Transition)
Strain of Origin: C57BL/6JJcI
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_7_KI_DN_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Insertion of C-terminal truncated dominant negative (DN) Disc1 under control of promoter for CaMKII.
Allele Type: Targeted (Knock In)
Strain of Origin: Not Specified
Genetic Background: C57BL/6
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_8_KI_H_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Tet-off mediated inducible expression of mutant human DISC1 gene in forebrain areas under control of the tetracycline-response element (TRE).
Allele Type: Targeted (Knock In)
Strain of Origin: Not Specified
Genetic Background: B6;SJL-Tg(TRE-cmv-Hdisc1) x B6; CBA-Tg(Camk2a-tTA_1Mmay/j
ES Cell Line: B6;SJL
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_11_KI_CC_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Inducible Disc1-cc transgene spanning residues 671-852 of Disc1 gene expressed under the control of the -calmodulin kinase II promoter using tamoxifen either at postnatal day (PD) 7 or adulthood.
Allele Type: Targeted (Knock In)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_10_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Truncation of Disc1 transcript due to two termination codons in exons 7 and 8 and a premature polyadenylation site in intron 8.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129S6/SvEvTac
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_9_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Truncation of Disc1 transcript due to two termination codons in exons 7 and 8 and a premature polyadenylation site in intron 8.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_DISC1_12_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mice lacking exons 2 and 3 of Disc1. Exons 2 and 3 were deleted and replaced with the targeted insertion of a stop codon and floxed neo cassette. .
Allele Type: knockout
Strain of Origin: (C57BL/6NCrlj x CBA/JNCrlj)F1
Genetic Background: C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: TT2 (ES Cell)
Model Source: Not Specified

M_DISC1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Spatial working memory1
Decreased
Description: Decreased spatial working memory
Exp Paradigm: Delayed non-match to place task
 Delayed non-match to place test
 6-8 weeks
Protein expression level evidence1
Decreased
Description: Decreased expression of full-length disc1 protein in total brain lysates and purified brain mitochondrial lysates
Exp Paradigm: Disc1 protein expression
 Western blot
 Unreported
General locomotor activity1
 No change
 Open field test
 6-8 weeks
Brain morphology1
 No change
 Histology
 Unreported
Sensorimotor gating1
 No change
 Prepulse inhibition
 6-8 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

M_DISC1_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Spatial working memory1
Decreased
Description: Decreased spatial working memory
Exp Paradigm: Delayed non-match to place task
 Delayed non-match to place test
 6-8 weeks
General locomotor activity1
 No change
 Open field test
 6-8 weeks
Sensorimotor gating1
 No change
 Prepulse inhibition
 6-8 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Social behavior

M_DISC1_3_Q31L_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
Description: Decreased locomotor activity
Exp Paradigm: Open field test after administration of clozapine (3 mg/kg) i.p.
 Open field test
 12-16 weeks
Brain size1
Decreased
Description: Decreased overall brain volume; tissue contraction in cortex, entorhinal cortex, thalamus, and cerebellum
Exp Paradigm: Magnetic resonance imaging (mri) analysis
 Magnetic resonance imaging (mri)
 12-16 weeks
Sensorimotor gating1
Increased
Description: Increased prepulse inhibition of acoustic startle response in response to administration of antidepressant bupropion
Exp Paradigm: Prepuluse inhibition assay performed after administration of bupropion (4mg/kg) i.p.
 Prepulse inhibition
 12-16 weeks
Sensorimotor gating1
Decreased
Description: Decreased prepulse inhibition of acoustic startle response
Exp Paradigm: Prepulse inhibition assay
 Prepulse inhibition
 12-16 weeks
Taste1
Decreased
Description: Decreased sucrose solution consumed as part of anhedonia, a core symptom of depression
Exp Paradigm: Sucrose preference test
 Sucrose preference test
 12-16 weeks
Startle response: acoustic stimulus1
Decreased
Description: Decreased startle response to acoustic and various other stimulus
Exp Paradigm: Response to 120db white noise stimulus
 Acoustic startle reflex test
 12-16 weeks
Social interaction1
Decreased
Description: Decreased social interaction demonstrated by less time spent in cylinder with unfamiliar mouse
Exp Paradigm: Social preference test in tripartite chamber
 Three-chamber social approach test
 12-16 weeks
Depression1
Increased
Description: Increased depression assayed by immobility on surface of water
Exp Paradigm: Forced swim test
 Forced swim test
 12-16 weeks
Depression1
Decreased
Description: Decreased depression after administration of antidepressant bupropion
Exp Paradigm: Forced swim test after administration of bupropion (4mg/kg) i.p.
 Forced swim test
 12-16 weeks
Spatial working memory1
Decreased
Description: Decreased spatial working memory
Exp Paradigm: T-maze task
 T-maze test
 12-16 weeks
Cued or contextual fear conditioning: latent inhibition1
Decreased
Description: Decreased latent inhibition of conditioned stimulus when paired with unconditioned stimulus
Exp Paradigm: Suppression of drinking in response to noise stimulus or noise paired with foot shock
 Fear conditioning test
 12-16 weeks
Enzyme activity1
Decreased
Description: Decreased pde4b activity
Exp Paradigm: Pde4b protein activity
 Enzyme assay
 12-16 weeks
Anxiety1
 No change
 Elevated plus maze test
 12-16 weeks
Cued or contextual fear conditioning: latent inhibition1
 No change
 Fear conditioning test
 12-16 weeks
Spatial reference memory1
 No change
 Morris water maze test
 12-16 weeks
Protein expression level evidence1
 No change
 Western blot
 12-16 weeks
Protein expression: in situ protein expression1
 No change
 Western blot
 12-16 weeks
Protein expression: in situ protein expression1
 No change
 Western blot
 12-16 weeks
General locomotor activity1
 No change
 Open field test
 12-16 weeks
Olfaction1
 No change
 Buried food test
 12-16 weeks
Sensorimotor gating1
 No change
 Prepulse inhibition
 12-16 weeks
Sensorimotor gating1
 No change
 Prepulse inhibition
 12-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_DISC1_4_Q31L_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
Description: Decreased locomotor activity
Exp Paradigm: Open field test after administration of clozapine (3 mg/kg) i.p.
 Open field test
 12-16 weeks
Sensorimotor gating1
Decreased
Description: Decreased prepulse inhibition of acoustic startle response
Exp Paradigm: Prepulse inhibition assay
 Prepulse inhibition
 12-16 weeks
Taste1
Decreased
Description: Decreased sucrose solution consumed as part of anhedonia, a core symptom of depression
Exp Paradigm: Sucrose preference test
 Sucrose preference test
 12-16 weeks
Startle response: acoustic stimulus1
Decreased
Description: Decreased startle response to acoustic and various other stimulus
Exp Paradigm: Response to 120db white noise stimulus
 Acoustic startle reflex test
 12-16 weeks
Anxiety1
 No change
 Elevated plus maze test
 12-16 weeks
Cued or contextual fear conditioning: latent inhibition1
 No change
 Fear conditioning test
 12-16 weeks
General locomotor activity1
 No change
 Open field test
 12-16 weeks
Olfaction1
 No change
 Buried food test
 12-16 weeks
Sensorimotor gating1
 No change
 Prepulse inhibition
 12-16 weeks
Social interaction1
 No change
 Three-chamber social approach test
 12-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_DISC1_5_L100P_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
Description: Decreased locomotor activity
Exp Paradigm: Open field test after administration of clozapine (3 mg/kg) i.p.
 Open field test
 12-16 weeks
General locomotor activity1
Increased
Description: Increased locomotion
Exp Paradigm: Open field test
 Open field test
 12-16 weeks
Brain size1
Decreased
Description: Decreased overall brain volume; tissue contraction in cortex, entorhinal cortex, thalamus, and cerebellum
Exp Paradigm: Magnetic resonance imaging (mri) analysis
 Magnetic resonance imaging (mri)
 12-16 weeks
Taste1
Decreased
Description: Decreased sucrose solution consumed as part of anhedonia, a core symptom of depression
Exp Paradigm: Sucrose preference test
 Sucrose preference test
 12-16 weeks
Sensorimotor gating1
Decreased
Description: Decreased prepulse inhibition of acoustic startle response
Exp Paradigm: Prepulse inhibition assay
 Prepulse inhibition
 12-16 weeks
Startle response: acoustic stimulus1
Decreased
Description: Decreased startle response to acoustic and various other stimulus
Exp Paradigm: Response to 120db white noise stimulus
 Acoustic startle reflex test
 12-16 weeks
Sensorimotor gating1
Increased
Description: Increased prepulse inhibition of acoustic startle response in response to administration of pde4 inhibitor rolipram
Exp Paradigm: Prepuluse inhibition assay performed after administration of rolipram (0.5 mg/kg) i.p.
 Prepulse inhibition
 12-16 weeks
Sensorimotor gating1
Increased
Description: Increased prepulse inhibition of acoustic startle response in response to administration of antipsychotics: haloperidol and clozapine
Exp Paradigm: Prepuluse inhibition assay performed after administration of clozapine (3mg/kg) and haloperidol (0.4 mg/kb) i.p.
 Prepulse inhibition
 12-16 weeks
Depression1
Increased
Description: Increased depression assayed by immobility on surface of water
Exp Paradigm: Forced swim test
 Forced swim test
 12-16 weeks
Depression1
Decreased
Description: Decreased depression after administration of antidepressant bupropion
Exp Paradigm: Forced swim test after administration of bupropion (4mg/kg) i.p.
 Forced swim test
 12-16 weeks
Spatial working memory1
Decreased
Description: Decreased spatial working memory
Exp Paradigm: T-maze task
 T-maze test
 12-16 weeks
Cued or contextual fear conditioning: latent inhibition1
Increased
Description: Increased latent inhibition of conditioned stimulus when paired with unconditioned stimulus after administration of clozapine
Exp Paradigm: Suppression of drinking in response to noise stimulus or noise paired with foot shock after administration of clozapine (3mg/kg) i.p.
 Fear conditioning test
 12-16 weeks
Cued or contextual fear conditioning: latent inhibition1
Decreased
Description: Decreased latent inhibition of conditioned stimulus when paired with unconditioned stimulus
Exp Paradigm: Suppression of drinking in response to noise stimulus or noise paired with foot shock
 Fear conditioning test
 12-16 weeks
Anxiety1
 No change
 Elevated plus maze test
 12-16 weeks
Spatial reference memory1
 No change
 Morris water maze test
 12-16 weeks
Enzyme activity1
 No change
 Enzyme assay
 12-16 weeks
Protein expression level evidence1
 No change
 Western blot
 12-16 weeks
Protein expression: in situ protein expression1
 No change
 Western blot
 12-16 weeks
Protein expression: in situ protein expression1
 No change
 Western blot
 12-16 weeks
Hearing1
 No change
 Auditory brainstem response test
 12-16 weeks
Olfaction1
 No change
 Buried food test
 12-16 weeks
Sensorimotor gating1
 No change
 Prepulse inhibition
 12-16 weeks
Social interaction1
 No change
 Three-chamber social approach test
 12-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_DISC1_6_L100P_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
Description: Decreased locomotor activity
Exp Paradigm: Open field test after administration of clozapine (3 mg/kg) i.p.
 Open field test
 12-16 weeks
Taste1
Decreased
Description: Decreased sucrose solution consumed as part of anhedonia, a core symptom of depression
Exp Paradigm: Sucrose preference test
 Sucrose preference test
 12-16 weeks
Sensorimotor gating1
Increased
Description: Increased prepulse inhibition of acoustic startle response in response to administration of the antipsychotic clozapine
Exp Paradigm: Prepulse inhibition assay performed after administration of clozapine (3mg/kg) i.p.
 Prepulse inhibition
 12-16 weeks
Sensorimotor gating1
Increased
Description: Increased prepulse inhibition of acoustic startle response in response to administration of pde4 inhibitor rolipram
Exp Paradigm: Prepuluse inhibition assay performed after administration of rolipram (0.5 mg/kg) i.p.
 Prepulse inhibition
 12-16 weeks
Sensorimotor gating1
Decreased
Description: Decreased prepulse inhibition of acoustic startle response
Exp Paradigm: Prepulse inhibition assay
 Prepulse inhibition
 12-16 weeks
Cued or contextual fear conditioning: latent inhibition1
Decreased
Description: Decreased latent inhibition of conditioned stimulus when paired with unconditioned stimulus
Exp Paradigm: Suppression of drinking in response to noise stimulus or noise paired with foot shock
 Fear conditioning test
 12-16 weeks
Anxiety1
 No change
 Elevated plus maze test
 12-16 weeks
Cued or contextual fear conditioning: latent inhibition1
 No change
 Fear conditioning test
 12-16 weeks
General locomotor activity1
 No change
 Open field test
 12-16 weeks
Olfaction1
 No change
 Buried food test
 12-16 weeks
Sensorimotor gating1
 No change
 Prepulse inhibition
 12-16 weeks
Social interaction1
 No change
 Three-chamber social approach test
 12-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_DISC1_7_KI_DN_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Increased general locomotor activity
Exp Paradigm: Open field test
 Open field test
 3-8 months
Hippocampal morphology1
Abnormal
Description: There is a significant change in the ratio in volume of the left/right lobes of the hippocampus compared to wild type littermates
Exp Paradigm: Ex vivo magnetic resonance imaging (mri) analysis
 Magnetic resonance imaging (mri)
 6 weeks
Brain morphology1
Increased
Description: Increased volume of lateral ventricles
Exp Paradigm: In vivo magnetic resonance imaging (mri) analysis
 Magnetic resonance imaging (mri)
 6 weeks
Size of cerebral ventricles: lateral ventricle1
Abnormal
Description: There is a significant change and/ reversal of the asymmetry between the left/right parts of the lateral ventricle in disc1 mutant mice compared to wild type littermates
Exp Paradigm: Ex vivo magnetic resonance imaging (mri) analysis
 Magnetic resonance imaging (mri)
 6 weeks
Olfaction1
Decreased
Description: Decreased olfaction demonstrated by increased time taken to find hidden food
Exp Paradigm: Buried food-finding test
 Buried food test
 3-8 months
Depression1
Increased
Description: Increased depression assayed by increased immobility on surface of water
Exp Paradigm: Forced swim test
 Forced swim test
 3-8 months
Marker expression1
Decreased
Description: A significant reduction is seen in parvalbumin expression in the interneurons present in the medial prefrontal cortex of disc1 mutant mice
Exp Paradigm: NA
 Immunohistochemistry
 3 months
Protein expression level evidence1
Decreased
Description: Decreased parvalbumin expression in the medial prefrontal cortex
Exp Paradigm: Parvalbumin expression
 Immunohistochemistry
 3 months
Anxiety1
 No change
 Elevated plus maze test
 3-8 months
Anxiety1
 No change
 Open field test
 3-8 months
Spatial reference memory1
 No change
 Morris water maze test
 3-8 months
Spatial working memory1
 No change
 Y-maze test
 3-8 months
Protein expression level evidence1
 No change
 Immunohistochemistry
 3 months
Protein expression level evidence1
 No change
 Immunohistochemistry
 3 months
Motor coordination and balance1
 No change
 Accelerating rotarod test
 3-8 months
Brain size1
 No change
 Magnetic resonance imaging (mri)
 6, 13 weeks
Sensorimotor gating1
 No change
 Prepulse inhibition
 3-8 months
Social interaction1
 No change
 Reciprocal social interaction test
 3-8 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_DISC1_8_KI_H_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Increased locomotion
Exp Paradigm: Male: open field test
 Open field test
 4-9 months
Brain morphology1
Decreased
Description: Decreased complexity of neurite arbor in primary cortical neurons
Exp Paradigm: Double immunostaining of primary neurons with anti-myc antibody
 Immunohistochemistry
 Unreported
Brain size1
Increased
Description: Increased volume of the lateral ventricles
Exp Paradigm: Magnetic resonance imaging (mri) analysis
 Magnetic resonance imaging (mri)
 9 months
Aggression1
Increased
Description: Increased aggressiveness
Exp Paradigm: Male mice: resident intruder
 Resident-intruder test
 4-9 months
Spatial reference memory1
Decreased
Description: Decreased spatial reference memory
Exp Paradigm: Female: morris water maze task
 Morris water maze test
 4-9 months
Protein expression level evidence1
Decreased
Description: Decreased levels of disc1 protein
Exp Paradigm: Disc1 protein expression
 Western blot
 P7
Protein expression level evidence1
Decreased
Description: Decreased levels of pre-synaptic marker snap-25
Exp Paradigm: Snap-25 protein expression
 Western blot
 P7
Protein expression level evidence1
Decreased
Description: Decreased levels of lis1 protein
Exp Paradigm: Lis1 protein expression
 Western blot
 P7
General characteristics1
 No change
 General observations
 Unreported
Size/growth1
 No change
 General observations
 Unreported
Anxiety1
 No change
 Elevated plus maze test
 4-9 months
Spatial learning1
 No change
 Morris water maze test
 4-9 months
Spatial reference memory1
 No change
 Morris water maze test
 4-9 months
Protein expression level evidence1
 No change
 Western blot
 P21, 9 months
Protein expression level evidence1
 No change
 Western blot
 P7
Protein expression level evidence1
 No change
 Western blot
 P7
General locomotor activity1
 No change
 Open field test
 4-9 months
Brain morphology1
 No change
 Histology
 P7, p21, p80
Olfaction1
 No change
 Buried food test
 4-9 months
Sensorimotor gating1
 No change
 Prepulse inhibition
 4-9 months
Social interaction1
 No change
 Reciprocal social interaction test
 4-9 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_DISC1_11_KI_CC_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Dendritic architecture: spine density1
Decreased
Description: Decreased dendritic complexity
Exp Paradigm: Transgene induced at pd7: dii (1,1'-dioctadecyl-3,3,3',3'-tetramethylindocarbocyanine) fluoresce rapid neuronal labeling method
 Sholl analysis
 3-4 months
Synaptic transmission1
Decreased
Description: Decreased synaptic transmission and synaptic i/o function of hippocampal ca1 region
Exp Paradigm: Transgene induced at pd7: measurement of field excitatory postsynaptic potential (fepsp) from hippocampal ca1 slices
 Field potential recordings
 3-4 months
Social approach1
Decreased
Description: Decreased social approach demonstrated by shorter time spent in unfamiliar mouse chamber
Exp Paradigm: Transgene induced at pd7: social preference test in tripartite chamber
 Three-chamber social approach test
 3-12 months
Depression1
Increased
Description: Increased depressive traits demonstrated by shorter latency to floating reaction
Exp Paradigm: Transgene induced at pd7: forced swim test
 Forced swim test
 3-12 months
Spatial working memory1
Decreased
Description: Decreased spatial working memory demonstrated by decreased percentage of correct choices
Exp Paradigm: Transgene induced at pd7: delayed nonmatched to place task
 Delayed non-match to place test
 3-12 months
General characteristics1
 No change
 General observations
 3-12 months
Anxiety1
 No change
 Elevated plus maze test
 3-12 months
Depression1
 No change
 Forced swim test
 3-12 months
Spatial working memory1
 No change
 Delayed non-match to place test
 3-12 months
General locomotor activity1
 No change
 Open field test
 3-12 months
Presynaptic function: paired-pulse facilitation1
 No change
 Paired-pulse ratio
 3-4 months
Synaptic plasticity1
 No change
 Long term potentiation (ltp)
 3-4 months
Social approach1
 No change
 Three-chamber social approach test
 3-12 months
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Molecular profile, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_DISC1_10_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Spatial working memory1
Decreased
Description: Decreased spatial working memory demonstrated by increased number of erros
Exp Paradigm: Two-choice delayed nonmatch to position (dnmp) task
 Delayed non-match to place test
 2-5 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_DISC1_9_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuronal differentiation1
Decreased
Description: There is an increased number of mature granule cells in the outer granule cell layer of the dentate gyrus in mutant mice compared to the distribution seen in wild type littermates
Exp Paradigm: NA
 NA
 2-5 months
Brain cytoarchitecture1
Decreased
Description: Decreased number of immature neurons in dentate gyrus (dg)
Exp Paradigm: Immunocytochemical analysis of dentate gyrus (dg) using doublecortin (dcx) antibodies and brdu labeling
 Immunohistochemistry
 2-5 months
Dendritic architecture: spine density1
Decreased
Description: Mutant mice have decreased total dendritic length, and decreased number of spines of granule cells and layer v pyramidal neurons
Exp Paradigm: Confocal image analysis of coronal sections of granule cells
 Immunohistochemistry
 2-3 months
Dendritic architecture: dendritic tree complexity1
Decreased
Description: The orientation angle and organization of mature and newborn granule cells is incorrect in the mutant mice
Exp Paradigm: Confocal image analysis of coronal sections of granule cells
 Immunohistochemistry
 2-3 months
Brain size1
Decreased
Description: Decreased prefrontal cortex volume
Exp Paradigm: Volumetric analysis
 Histology
 2-5 months
Synaptic plasticity1
Decreased
Description: Decreased short-term potentiation (stp) of ca1/ca3 hippocampal synapse
Exp Paradigm: Extracellular field recordings were made from stratum radiatum of ca1 after tetanization
 Field potential recordings
 7-9 weeks
Spatial working memory1
Decreased
Description: Decreased spatial working memory demonstrated by increased number of erros
Exp Paradigm: Two-choice delayed nonmatch to position (dnmp) task
 Delayed non-match to place test
 2-5 months
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 2-5 months
Object recognition memory1
 No change
 Novel object recognition test
 2-5 months
Spatial reference memory1
 No change
 Morris water maze test
 2-5 months
Spatial working memory1
 No change
 Radial maze test
 2-5 months
Brain cytoarchitecture1
 No change
 Immunohistochemistry
 2-5 months
Brain morphology1
 No change
 Immunohistochemistry
 2-3 months
Brain morphology1
 No change
 Immunohistochemistry
 2-3 months
Brain morphology1
 No change
 Histology
 2-5 months
Brain morphology1
 No change
 Histology
 2-5 months
Brain size1
 No change
 Histology
 2-5 months
Synaptic plasticity1
 No change
 Field potential recordings
 7-9 weeks
Synaptic transmission1
 No change
 Field potential recordings
 7-9 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_DISC1_12_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuronal activation1
Increased
Description: Mutants show a larger number of c-fos positive cells in the dorsomedial striatum (dms) following the early visual discrimination session, compared to controls. mutants show no change in the number of c-fos positive cells in the dorsomedial striatum (dms) following the late visual discrimination session, compared to controls. mutants show no change in the number of c-fos positive cells in the dorsolateral striatum in the early visual discrimination phase, compared to controls, although both mutants and controls show an increase in the number of c-fos positive cells in the late session compared to the early visual discrimination session.
Exp Paradigm: NA
 Immunohistochemistry
 Adult
Repetitive digging1
Increased
Description: Mutants buried more marbles than controls.
Exp Paradigm: NA
 Marble-burying test
 Adult
Perseveration1
Increased
Description: Mutants show higher number of correction trials as a ratio of errors (perseveration index) in the early discrimination sessions, compared to controls. mutants show no change in perseveration index in the late discrimination sessions compared to controls.
Exp Paradigm: Touching the incorrect stimulus in the correction trials was assayed as a measure of perseveration.
 Operant conditioning paradigm
 Adult
Nest building behavior1
Increased
Description: Mutants shredded more of the provided nestlets than controls, indicating an increase in repetitive behavior.
Exp Paradigm: NA
 Nest building assay
 Adult
Reward reinforced choice behavior1
Decreased
Description: Mutants show no change in the pre-training phase compared to controls. mutants needed more trials to reach criterion for reward and performed more correction trials, compared to controls, in the visual discrimination task. mutants showed fewer correct responses in the early phase of the visual discrimination task compared to controls. mutants show no change in capacity to ultimately attain the same level of accuracy as controls.
Exp Paradigm: Mice are subjected to a touchscreen-based visual discrimination task involving discrimination of two stimuli for a liquid reward. pre-training included habituation, initial touch, must touch, must initiate, and punish incorrect, phases.
 Operant conditioning paradigm
 Adult
Cognitive flexibility1
 No change
 Operant conditioning paradigm
 Adult
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Seizure, Sensory


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ACTG1 actin, gamma 1 71 P63261 Y2H
Camargo LM , et al. 2006
ACTN1 actinin, alpha 1 87 P12814 Y2H
Millar JK , et al. 2003
ACTN2 actinin, alpha 2 88 P35609 Y2H; Beta-galactosidase filter assay; IP/WB
Morris JA , et al. 2003
AGTPBP1 ATP/GTP binding protein 1 23287 Q9UPW5 Y2H
Camargo LM , et al. 2006
AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 10142 Q99996 Y2H
Millar JK , et al. 2003
ANKHD1 ankyrin repeat and KH domain containing 1 54882 Q8IWZ3 Y2H; Beta-galactosidase filter assay; IP/WB
Morris JA , et al. 2003
APLP1 amyloid beta (A4) precursor-like protein 1 333 P51693 Y2H
Millar JK , et al. 2003
APP amyloid beta (A4) precursor protein 351 P05067 IP/WB
Young-Pearse TL , et al. 2010
ARHGEF11 Rho guanine nucleotide exchange factor (GEF) 11 9826 O15085 Y2H
Millar JK , et al. 2003
ARIH2 ariadne homolog 2 (Drosophila) 10425 O95376 Y2H
Camargo LM , et al. 2006
ASB3 ankyrin repeat and SOCS box containing 3 51130 Q9Y575 IP; LC-MS/MS
Huttlin EL , et al. 2015
ATF4 activating transcription factor 4 (tax-responsive enhancer element B67) 468 P18848 Y2H; Beta-galactosidase filter assay; M2H; Luciferase reporter assay
Morris JA , et al. 2003
ATF5 activating transcription factor 5 22809 Q9Y2D1 Y2H; Beta-galactosidase filter assay; IP/WB; M2H; Luciferase reporter assay
Morris JA , et al. 2003
ATF7IP activating transcription factor 7 interacting protein 55729 Q6VMQ6 Y2H; Beta-galactosidase filter assay
Morris JA , et al. 2003
BBS1 Bardet-Biedl syndrome 1 582 Q8NFJ9 IP/WB
Kamiya A , et al. 2008
BBS2 Bardet-Biedl syndrome 2 583 Q9BXC9 IP/WB
Kamiya A , et al. 2008
BBS4 Bardet-Biedl syndrome 4 585 Q96RK4 IP/WB
Kamiya A , et al. 2008
BBS5 Bardet-Biedl syndrome 5 129880 Q8N3I7 IP/WB
Kamiya A , et al. 2008
BBS7 Bardet-Biedl syndrome 7 55212 Q8IWZ6 IP/WB
Kamiya A , et al. 2008
BICD1 bicaudal D homolog 1 (Drosophila) 636 Q96G01 Y2H
Camargo LM , et al. 2006
BZRAP1 benzodiazapine receptor (peripheral) associated protein 1 9256 O95153 Y2H
Corominas R , et al. 2014
C14ORF135 chromosome 14 open reading frame 135 64430 Q63HM2 Y2H
Camargo LM , et al. 2006
C14ORF166 chromosome 14 open reading frame 166 51637 Q9Y224 Y2H
Camargo LM , et al. 2006
C17ORF59 chromosome 17 open reading frame 59 NM_017622 Q96GS4 IP; LC-MS/MS
Huttlin EL , et al. 2015
Cacna2d1 calcium channel, voltage-dependent, alpha2/delta subunit 1 12293 O08532 RNA immunoprecipitation (RIP)/qRT-PCR
Tsuboi D , et al. 2015
CCDC136 coiled-coil domain containing 136 64753 Q96JN2 Y2H
Camargo LM , et al. 2006
CCDC141 coiled-coil domain containing 141 285025 Q6ZP82 Y2H; Beta-galactosidase filter assay
Morris JA , et al. 2003
CCDC24 coiled-coil domain containing 24 149473 Q8N4L8 Y2H
Camargo LM , et al. 2006
CCDC88A coiled-coil domain containing 88A 55704 Q3V6T2 Y2H
Camargo LM , et al. 2006
CDC16 cell division cycle 16 8881 Q13042 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDC5L CDC5 cell division cycle 5-like (S. pombe) 988 Q99459 Y2H
Camargo LM , et al. 2006
CDK5RAP3 CDK5 regulatory subunit associated protein 3 80279 Q96JB5 Y2H
Camargo LM , et al. 2006
CELA1 Chymotrypsin-like elastase family member 1 1990 Q9UNI1 IP; LC-MS/MS
Huttlin EL , et al. 2015
CEP170 centrosomal protein 170kDa 9859 Q5SW79 Y2H
Camargo LM , et al. 2006
CEP290 centrosomal protein 290kDa 80184 O15078 Y2H
Millar JK , et al. 2003
CEP57L1 centrosomal protein 57kDa-like 1 285753 Q8IYX8 Y2H
Camargo LM , et al. 2006
CEP63 centrosomal protein 63kDa 80254 Q96MT8 Y2H; Beta-galactosidase filter assay; IP/WB
Morris JA , et al. 2003
CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 84303 Q9BRQ6 S-tag pull-down assay; IP/WB
An J , et al. 2012
CIT citron (rho-interacting, serine/threonine kinase 21) 11113 O14578 Y2H
Ozeki Y , et al. 2002
CLU clusterin 1191 P10909 Y2H
Camargo LM , et al. 2006
COL6A2 collagen, type VI, alpha 2 1292 P12110 Y2H; Beta-galactosidase filter assay
Morris JA , et al. 2003
CRNKL1 crooked neck pre-mRNA splicing factor-like 1 (Drosophila) 51340 Q9BZJ0 Y2H
Camargo LM , et al. 2006
CRYBA4 Beta-crystallin A4 1413 P53673 IP; LC-MS/MS
Huttlin EL , et al. 2015
DAB1 disabled homolog 1 (Drosophila) 1600 O75553 IP/WB
Young-Pearse TL , et al. 2010
DBNDD2 dysbindin (dystrobrevin binding protein 1) domain containing 2 55861 Q9BQY9 Y2H; in vitro binding assay; IP/WB; Co-localization
Lee SA , et al. 2015
DCTN1 dynactin 1 1639 Q14203 Y2H
Camargo LM , et al. 2006
DCTN2 dynactin 2 (p50) 10540 Q13561 Y2H
Camargo LM , et al. 2006
DLG4 DLG4discs, large homolog 4 (Drosophila) 1742 P78352 IP/WB
Seshadri S , et al. 2015
DMD dystrophin 1756 P11532 Y2H
Camargo LM , et al. 2006
DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 7266 Q99615 Y2H
Camargo LM , et al. 2006
DPYSL2 dihydropyrimidinase-like 2 1808 Q16555 Y2H
Camargo LM , et al. 2006
DPYSL3 dihydropyrimidinase-like 3 1809 Q14195 Y2H
Camargo LM , et al. 2006
DST dystonin 667 Q03001 Y2H
Camargo LM , et al. 2006
DTNBP1 dystrobrevin binding protein 1 84062 Q96EV8 Size-exclusion chromatography (SEC)
Ottis P , et al. 2011
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 1778 Q14204 Y2H
Camargo LM , et al. 2006
DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1 1780 A4D1I7 IP; LC-MS/MS
Huttlin EL , et al. 2015
Dysb Dysbindin ortholog 40052 Q9VVT5 Proximity ligation assay
Furukubo-Tokunaga K , et al. 2016
EEF2 eukaryotic translation elongation factor 2 1938 P13639 Y2H
Camargo LM , et al. 2006
EIF3H eukaryotic translation initiation factor 3, subunit H 8667 O15372 Y2H; Beta-galactosidase filter assay; IP/WB
Morris JA , et al. 2003
EPB49 erythrocyte membrane protein band 4.9 (dematin) 2039 Q08495 Y2H
Millar JK , et al. 2003
EXOC1 exocyst complex component 1 55763 Q9NV70 Y2H
Camargo LM , et al. 2006
EXOC7 exocyst complex component 7 23265 Q9UPT5 Y2H
Camargo LM , et al. 2006
FBXO41 F-box protein 41 150726 Q8TF61 Y2H
Camargo LM , et al. 2006
FEZ1 fasciculation and elongation protein zeta 1 (zygin I) 9638 Q99689 Y2H; IP/WB
Miyoshi K , et al. 2003
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FRYL FRY-like 285527 O94915 Y2H
Camargo LM , et al. 2006
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 2782 P62873 Y2H
Camargo LM , et al. 2006
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 79158 Q3T906 Y2H
Camargo LM , et al. 2006
GOLGA2 golgin A2 2801 Q08379 Y2H
Millar JK , et al. 2003
GPRASP2 G protein-coupled receptor associated sorting protein 2 114928 Q96D09 Y2H
Camargo LM , et al. 2006
GRIPAP1 GRIP1 associated protein 1 56850 Q4V328 Y2H
Millar JK , et al. 2003
HERC2P2 hect domain and RLD 2 pseudogene 2 400322 N/A Y2H
Camargo LM , et al. 2006
IMMT inner membrane protein, mitochondrial 10989 Q16891 Y2H
Millar JK , et al. 2003
Itpr1 inositol 1,4,5-trisphosphate receptor 1 16438 P11881 in vitro binding assay; EMSA; RNA immunoprecipitation (RIP)/qRT-PCR; Co-localization
Tsuboi D , et al. 2015
ITSN1 intersectin 1 (SH3 domain protein) 6453 Q15811 Y2H; Beta-galactosidase filter assay
Morris JA , et al. 2003
KALRN kalirin, RhoGEF kinase 8997 O60229 Y2H
Millar JK , et al. 2003
Kalrn kalirin, RhoGEF kinase 545156 A2CG49 RNA immunoprecipitation (RIP)/qRT-PCR
Tsuboi D , et al. 2015
KATNAL1 katanin p60 subunit A-like 1 84056 Q9BW62 Y2H
Millar JK , et al. 2003
KCNQ5 potassium voltage-gated channel, KQT-like subfamily, member 5 56479 Q9NR82 Y2H
Ozeki Y , et al. 2002
KIAA1377 KIAA1377 57562 Q9P2H0 Y2H; Beta-galactosidase filter assay
Morris JA , et al. 2003
KIF3A kinesin family member 3A 11127 Q9Y496 Y2H
Camargo LM , et al. 2006
KIF3C kinesin family member 3C 3797 O14782 Y2H
Camargo LM , et al. 2006
Kif5a kinesin family member 5A 314906 Q6QLM7 IP; LC-MS/MS; IP/WB
Tsuboi D , et al. 2015
KIFAP3 kinesin-associated protein 3 22920 Q92845 Y2H
Camargo LM , et al. 2006
MACF1 microtubule-actin crosslinking factor 1 23499 Q9UPN3 Y2H
Camargo LM , et al. 2006
MAP1A microtubule-associated protein 1A 4130 P78559 Y2H; Beta-galactosidase filter assay; IP/WB
Morris JA , et al. 2003
MATR3 matrin 3 9782 P43243 Y2H
Camargo LM , et al. 2006
MEMO1 mediator of cell motility 1 51072 Q9Y316 Y2H
Camargo LM , et al. 2006
Mfn1 mitofusin 1 67414 Q811U4 IP/WB; Co-localization
Norkett R , et al. 2015
Mfn2 mitofusin 2 170731 Q80U63 IP/WB; Co-localization
Norkett R , et al. 2015
MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 4248 Q09327 Y2H
Millar JK , et al. 2003
MKKS McKusick-Kaufman syndrome 8195 Q9NPJ1 IP/WB
Kamiya A , et al. 2008
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 23209 Q15049 Y2H
Millar JK , et al. 2003
MPPED1 metallophosphoesterase domain containing 1 758 O15442 Y2H
Camargo LM , et al. 2006
MVP major vault protein 9961 Q14764 Y2H
Corominas R , et al. 2014
MYF6 myogenic factor 6 (herculin) 4618 P23409 IP; LC-MS/MS
Huttlin EL , et al. 2015
MYH7 myosin, heavy chain 7, cardiac muscle, beta 4625 P12883 Y2H; Beta-galactosidase filter assay
Morris JA , et al. 2003
MYT1L myelin transcription factor 1-like 23040 Q9UL68 Y2H
Camargo LM , et al. 2006
NDE1 nudE nuclear distribution E homolog 1 (A. nidulans) 54820 Q9NXR1 Y2H
Millar JK , et al. 2003
NDE1 nudE nuclear distribution E homolog 1 (A. nidulans) 54820 Q9NXR1 Y2H
Corominas R , et al. 2014
NDEL1 nudE nuclear distribution E homolog (A. nidulans)-like 1 81565 Q9GZM8 Y2H; in vitro binding assay; IP/WB
Ozeki Y , et al. 2002
NDEL1 nudE nuclear distribution E homolog (A. nidulans)-like 1 81565 Q9GZM8 Y2H
Lee SA , et al. 2015
NDEL1 nudE nuclear distribution E homolog (A. nidulans)-like 1 81565 Q9GZM8 IP; LC-MS/MS
Huttlin EL , et al. 2015
NUP160 nucleoporin 160kDa 23279 Q12769 Y2H
Camargo LM , et al. 2006
OLFM1 olfactomedin 1 10439 Q99784 Y2H
Camargo LM , et al. 2006
P4HA2 Prolyl 4-hydroxylase subunit alpha-2 8974 O15460-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
P4HA3 prolyl 4-hydroxylase, alpha polypeptide III 283208 Q7Z4N8 IP; LC-MS/MS
Huttlin EL , et al. 2015
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 5048 P43034 Y2H
Camargo LM , et al. 2006
PCM1 pericentriolar material 1 5108 Q15154 IP/WB
Kamiya A , et al. 2008
PCNT pericentrin 5116 O95613 Y2H; IP/WB
Miyoshi K , et al. 2004
PDE4B phosphodiesterase 4B, cAMP-specific 5142 Q07343 Y2H
Camargo LM , et al. 2006
PGK1 phosphoglycerate kinase 1 5230 P00558 Y2H
Camargo LM , et al. 2006
PPFIA4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 8497 O75335 Y2H
Millar JK , et al. 2003
PPM1E protein phosphatase, Mg2+/Mn2+ dependent, 1E 22843 Q8WY54 Y2H
Camargo LM , et al. 2006
PPP4R1 protein phosphatase 4, regulatory subunit 1 9989 Q8TF05 Y2H
Camargo LM , et al. 2006
PPP5C protein phosphatase 5, catalytic subunit 5536 P53041 Y2H
Camargo LM , et al. 2006
RABGAP1 RAB GTPase activating protein 1 23637 Q9Y3P9 Y2H
Camargo LM , et al. 2006
RAD21 RAD21 homolog (S. pombe) 5885 O60216 Y2H
Camargo LM , et al. 2006
RANBP9 RAN binding protein 9 10048 Q96S59 Y2H; Beta-galactosidase filter assay; IP/WB
Morris JA , et al. 2003
RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 8045 Q02833 Y2H; Beta-galactosidase filter assay
Morris JA , et al. 2003
RHOT1 ras homolog family member T1 55288 Q8IXI2 IP/WB; Proximity ligation assay; Co-localization
Norkett R , et al. 2015
RHOT2 ras homolog family member T2 89941 Q8IXI1 IP/WB
Norkett R , et al. 2015
RIBC1 RIB43A-like with coiled-coils protein 1 158787 Q8N443 IP; LC-MS/MS
Huttlin EL , et al. 2015
ROGDI rogdi homolog (Drosophila) 79641 Q9GZN7 Y2H
Camargo LM , et al. 2006
SCOC short coiled-coil protein 60592 Q9UIL1 Y2H
Millar JK , et al. 2003
SH3BP5 SH3-domain binding protein 5 (BTK-associated) 9467 O60239 Y2H
Camargo LM , et al. 2006
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 6502 B4DJT4 IP; LC-MS/MS
Huttlin EL , et al. 2015
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 6605 Q969G3 Y2H
Millar JK , et al. 2003
SMC2 structural maintenance of chromosomes 2 10592 O95347 Y2H
Camargo LM , et al. 2006
SNX6 sorting nexin 6 58533 Q9UNH7 Y2H
Camargo LM , et al. 2006
SPARCL1 SPARC-like 1 (hevin) 8404 Q14515 Y2H
Camargo LM , et al. 2006
SPTAN1 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) 6709 Q13813 Y2H
Millar JK , et al. 2003
SPTBN1 spectrin, beta, non-erythrocytic 1 6711 Q01082 Y2H
Camargo LM , et al. 2006
SPTBN4 spectrin, beta, non-erythrocytic 4 57731 Q9H254 Y2H
Ozeki Y , et al. 2002
SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 23380 O75044 Y2H
Camargo LM , et al. 2006
STX11 syntaxin 11 8676 O75558 IP; LC-MS/MS
Huttlin EL , et al. 2015
STX18 syntaxin 18 53407 Q9P2W9 Y2H
Camargo LM , et al. 2006
Syncrip synaptotagmin binding, cytoplasmic RNA interacting protein 363113 Q7TP47 IP; LC-MS/MS; IP/WB
Tsuboi D , et al. 2015
SYNE1 spectrin repeat containing, nuclear envelope 1 23345 Q8NF91 Y2H; Beta-galactosidase filter assay; IP/WB
Morris JA , et al. 2003
TCL1B T-cell leukemia/lymphoma protein 1B 9623 O95988 IP; LC-MS/MS
Huttlin EL , et al. 2015
TENC1 tensin like C1 domain containing phosphatase (tensin 2) 23371 Q63HR2 Y2H
Millar JK , et al. 2003
TFIP11 tuftelin interacting protein 11 24144 Q9UBB9 Y2H
Camargo LM , et al. 2006
TIAM2 T-cell lymphoma invasion and metastasis 2 26230 Q8IVF5 Y2H
Camargo LM , et al. 2006
TNIK TRAF2 and NCK interacting kinase 23043 Q9UKE5 Y2H
Camargo LM , et al. 2006
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 8658 O95271 Y2H
Camargo LM , et al. 2006
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1 26146 Q8TDR0 Y2H; Beta-galactosidase filter assay; IP/WB
Morris JA , et al. 2003
TRAK1 trafficking protein, kinesin binding 1 22906 Q9UPV9 IP/WB
Norkett R , et al. 2015
TRAK2 trafficking protein, kinesin binding 2 66008 O60296 IP/WB; Co-localization
Norkett R , et al. 2015
TRIO triple functional domain (PTPRF interacting) 7204 O75962 Y2H
Camargo LM , et al. 2006
TTC8 tetratricopeptide repeat domain 8 123016 Q8TAM2 IP/WB
Kamiya A , et al. 2008
TUBB tubulin, beta 203068 P07437 Y2H
Camargo LM , et al. 2006
TUBB2A tubulin, beta 2A class IIa 7280 Q13885 Y2H
Camargo LM , et al. 2006
UTRN utrophin 7402 P46939 Y2H
Camargo LM , et al. 2006
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 7511 Q9NQW7 Y2H
Camargo LM , et al. 2006
XRN2 5'-3' exoribonuclease 2 22803 Q9H0D6 Y2H
Camargo LM , et al. 2006
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 7531 P62258 Y2H
Camargo LM , et al. 2006
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 7532 P61981 Y2H
Ozeki Y , et al. 2002
YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 10971 P27348 Y2H
Camargo LM , et al. 2006
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 7534 P63104 Y2H
Camargo LM , et al. 2006
Zfp385a zinc finger protein 385A 685474 A0A0G2KB91 in vitro binding assay; IP; LC-MS/MS; IP/WB; Co-localization
Tsuboi D , et al. 2015
ZNF197 zinc finger protein 197 10168 O14709 Y2H
Camargo LM , et al. 2006
ZNF365 zinc finger protein 365 22891 Q70YC5 Y2H
Camargo LM , et al. 2006
DIXDC1 DIX domain containing 1 330938 Q80Y83 IP/WB
Singh KK , et al. 2010
GSK3B glycogen synthase kinase 3 beta 56637 Q9WV60 IP/WB; in vitro binding assay; in vitro kinase assay
Mao Y , et al. 2009
Rassf7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 66985 Q9DD19 in vitro binding assay; IP/WB; Co-localization
Wang S , et al. 2016
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 296380 Q7TSU1 Affinity chromatography; MS
Taya S , et al. 2007
DISC1 disrupted in schizophrenia 1 307940 Q810H6 IP/WB; GST
Kamiya A , et al. 2005
DLG4 discs, large homolog 4 (Drosophila) 29495 P31016 IP/WB
Hayashi-Takagi A , et al. 2010
DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 29564 Q63100 IP/WB
Taya S , et al. 2007
GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2 like 1 83427 P63245 Affinity chromatography; MS
Taya S , et al. 2007
Grb2 growth factor receptor bound protein 2 81504 P62994 Affinity chromatography; MS; GST; IP/WB
Shinoda T , et al. 2007
KIF5A kinesin family member 5A 314906 Q6QLM7 Affinity chromatography; MS; GST; IP/WB
Taya S , et al. 2007
KIF5B kinesin family member 5B 117550 Q2PQA9 Affinity chromatography; MS; IP/WB
Taya S , et al. 2007
KIF5C kinesin family member 5C 311024 P56536 GST
Taya S , et al. 2007
KLC1 kinesin light chain 1 171041 P37285 IP/WB
Taya S , et al. 2007
KLC2 kinesin light chain 2 309159 B2GV74 IP/WB
Taya S , et al. 2007
PACS1 phosphofurin acidic cluster sorting protein 1 171444 O88588 Affinity chromatography; MS
Taya S , et al. 2007
TUBG1 tubulin, gamma 1 252921 P83888 IP/WB
Kamiya A , et al. 2005

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