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Relevance to Autism

De novo missense variants in the DEAF1 gene that resulted in impaired transcriptional regulation of the DEAF1 promoter were identified in four individuals with intellectual disability, mild motor delay, and severely affected speech development; three of these individuals also displayed severe behavioral problems consisting of autistic, hyperactive, compulsive, and aggressive behavior with striking mood swings and poor eye contact (Vulto-van Silfhout et al., 2014; Rauch et al., 2012; Vissers et al., 2010).

Molecular Function

Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene and down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
ID
ASD or autistic behavior
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
ASD, ID, structural brain abnormalities
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Support
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T...
ID
Microcephaly
Support
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
ID, ASD or autistic traits
Support
A de novo paradigm for mental retardation.
ID
Support
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
ID, epilepsy/seizures, autistic behavior
Dyskinesia, absent speech
Support
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND...
ID
Epilepsy/seizures, ASD
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
ASD
Support
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
ID
Epilepsy/seizures
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Autosomal dominant mental retardation-24, Dyskines
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN610R001 
 missense_variant 
 c.670C>T 
 p.Arg224Trp 
 De novo 
  
 Simplex 
 GEN610R002 
 missense_variant 
 c.762A>C 
 p.Arg254Ser 
 De novo 
  
 Simplex 
 GEN610R003 
 missense_variant 
 c.683T>G 
 p.Ile228Ser 
 De novo 
  
 Simplex 
 GEN610R004 
 missense_variant 
 c.791A>C 
 p.Gln264Pro 
 De novo 
  
 Simplex 
 GEN610R005 
 missense_variant;missense_variant 
 c.[676C>T];[676C>T] 
 p.[Arg226Trp];[Arg226Trp] 
 Familial 
 Both parents 
 Multiplex 
 GEN610R006 
 missense_variant 
 c.658G>A 
 p.Gly220Ser 
 De novo 
  
 Simplex 
 GEN610R007 
 missense_variant 
 c.656T>C 
 p.Leu219Pro 
 De novo 
  
 Simplex 
 GEN610R008 
 missense_variant 
 c.791A>C;c.153A>C 
 p.Gln264Pro;p.Gln52Pro 
 De novo 
  
 Unknown 
 GEN610R009 
 splice_site_variant 
 c.290-3C>G 
 p.Glu97ValfsTer3 
 Familial 
 Maternal 
 Simplex 
 GEN610R010 
 splice_site_variant;splice_site_variant 
 c.[997+4A>C];[997+4A>C] 
 p.[Gly292ProfsTer];[Gly292ProfsTer] 
 Familial 
 Both parents 
 Multiplex 
 GEN610R011 
 missense_variant;missense_variant 
 c.[676C>T];[676C>T] 
 p.[Arg226Trp];[Arg226Trp] 
 Familial 
 Both parents 
 Multiplex 
 GEN610R012 
 splice_site_variant;splice_site_variant 
 c.[997+4A>C];[997+4A>C] 
 p.? 
 Familial 
 Both parents 
  
 GEN610R013 
 missense_variant 
 c.775C>T 
 p.Ala259Thr 
 De novo 
  
 Simplex 
 GEN610R014 
 missense_variant 
 c.764C>T 
 p.Ser255Asn 
 De novo 
  
  
 GEN610R015 
 missense_variant 
 c.739C>T 
 p.Ala247Thr 
 De novo 
  
  
 GEN610R016 
 missense_variant 
 c.635C>T 
 p.Gly212Asp 
 De novo 
  
  
 GEN610R017 
 missense_variant 
 c.667C>T 
 p.Gly223Ser 
 Familial 
 Maternal 
  
 GEN610R018 
 missense_variant 
 c.776G>A 
 p.Ala259Val 
 Familial 
 Paternal 
 Simplex 
 GEN610R019 
 missense_variant 
 c.754A>G 
 p.Trp252Arg 
 Unknown 
 Not maternal 
  
 GEN610R020 
 missense_variant 
 c.769G>C 
 p.Arg257Gly 
 Unknown 
  
  
 GEN610R021 
 missense_variant 
 c.596T>C 
 p.Tyr199Cys 
 Unknown 
  
  
 GEN610R022 
 missense_variant 
 c.634G>A 
 p.Gly212Ser 
 De novo 
  
 Simplex 
 GEN610R023 
 missense_variant;missense_variant 
 c.[676C>T];[676C>T] 
 p.[Arg226Trp];[Arg226Trp] 
 Familial 
 Both parents 
  
 GEN610R024 
 missense_variant 
 c.700T>A 
 p.Trp234Arg 
 De novo 
  
 Simplex 
 GEN610R025 
 missense_variant 
 c.737G>C 
 p.Arg246Thr 
 De novo 
  
 Simplex 
 GEN610R026 
 missense_variant 
 c.791A>C 
 p.Gln264Pro 
 De novo 
  
 Simplex 
 GEN610R027 
 inframe_deletion 
 c.913_915del 
 p.Lys305del 
 De novo 
  
 Multiplex 
 GEN610R028 
 splice_site_variant 
 c.664+2T>G 
 p.? 
 De novo 
  
 Simplex 
 GEN610R029 
 splice_site_variant 
 c.664+2T>G 
 p.? 
 De novo 
  
  
 GEN610R030 
 missense_variant 
 c.634G>A 
 p.Gly212Ser 
 De novo 
  
  
 GEN610R031 
 missense_variant 
 c.634G>A 
 p.Gly212Ser 
 De novo 
  
  
 GEN610R032 
 missense_variant 
 c.637A>C 
 p.Thr213Pro 
 De novo 
  
  
 GEN610R033 
 missense_variant 
 c.640C>G 
 p.Leu214Val 
 De novo 
  
  
 GEN610R034 
 missense_variant 
 c.641T>C 
 p.Leu214Pro 
 De novo 
  
  
 GEN610R035 
 missense_variant 
 c.646A>G 
 p.Lys216Glu 
 De novo 
  
  
 GEN610R036 
 missense_variant 
 c.648G>T 
 p.Lys216Asn 
 De novo 
  
  
 GEN610R037 
 splice_site_variant 
 c.664+1G>T 
 p.Pro174_Gly222del 
 De novo 
  
  
 GEN610R038 
 missense_variant 
 c.674G>A 
 p.Gly225Glu 
 De novo 
  
  
 GEN610R039 
 missense_variant 
 c.683T>C 
 p.Ile228Thr 
 De novo 
  
  
 GEN610R040 
 missense_variant 
 c.706A>G 
 p.Ser236Gly 
 De novo 
  
  
 GEN610R041 
 missense_variant 
 c.757A>G 
 p.Lys253Glu 
 De novo 
  
  
 GEN610R042 
 inframe_deletion 
 c.762_764delAAG 
 p.Arg254del 
 De novo 
  
  
 GEN610R043 
 missense_variant 
 c.791A>C 
 p.Gln264Pro 
 De novo 
  
  
 GEN610R044 
 missense_variant 
 c.815T>C 
 p.Leu272Ser 
 De novo 
  
  
 GEN610R045 
 missense_variant 
 c.826G>C 
 p.Ala276Pro 
 De novo 
  
  
 GEN610R046 
 missense_variant 
 c.826G>C 
 p.Ala276Pro 
 De novo 
  
  
 GEN610R047 
 frameshift_variant;frameshift_variant 
 c.[1104_1105dup];[1617dup] 
 p.[Asp369AlafsTer51];[Cys540MetfsTer18] 
 Familial 
 Maternal and paternal 
 Simplex 
 GEN610R048 
 frameshift_variant;inframe_deletion 
 c.[130delA];[1580_1582delTCT] 
 p.[Arg44GlyfsTer25];[Phe527del] 
 Familial 
 Maternal and paternal 
 Simplex 
 GEN610R049 
 stop_gained;missense_variant 
 c.[701G>A];[716A>G] 
 p.[Trp234Ter];[Glu239Gly] 
 Unknown 
  
 Simplex 
 GEN610R050 
 missense_variant;missense_variant 
 c.[671G>A];[671G>A] 
 p.[Arg224Gln];[Arg224Gln] 
 Familial 
 Both parents 
 Multiplex 
 GEN610R051 
 splice_site_variant 
 c.870+1G>A 
 p.? 
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 20
 
11
Duplication
 1
 
11
Duplication
 1
 

Model Summary

Deaf1 knockout in mice increases 5-HT1A autoreceptor expression with no change in the corresponding serotonin1A autoreceptor mediated current in serotonin neurons, 5-HT1A autoreceptor antagonist, DPAT-induced hypothermia increased in male but not female Deaf1 homozygous knockout mice, and reduced with succeeding generations, Deaf1 homozygous knockout mouse models also showed mild anxiety in a sex and test dependent manner, No depression was observed in either sexes of Deaf1 homozygous knockout mouse models.

References

Type
Title
Author, Year
Additional
Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner Deaf-1.
Additional
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Primary
Sex-dependent adaptive changes in serotonin-1A autoreceptor function and anxiety in Deaf1-deficient mice.

M_DEAF1_6_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Deaf1 gene is mutated by disrupting exons 2 and 3 that encode the SAND domain and replacing amino acids 192-269 with a PGK-neo cassette. Deaf-1 chimeras were crossed with Gata1-cre transgenic mice to generate progeny that were heterozygous, which wer further bred to give homozygous knockouts. Gata1-Cre is expressed early in embryogenesis.
Allele Type: Targeted (conditional knockout)
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: Unreported
Mutant ES Cell Line: CJ-7 ES cells
Model Source: Unreported

M_DEAF1_6_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Deaf1 gene is mutated by disrupting exons 2 and 3 that encode the SAND domain and replacing amino acids 192-269 with a PGK-neo cassette. Deaf-1 chimeras were crossed with Gata1-cre transgenic mice to generate progeny that were heterozygous. Gata1-Cre is expressed early in embryogenesis.
Allele Type: Targeted (conditional knockout)
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: Unreported
Mutant ES Cell Line: CJ-7 ES cells
Model Source: Unreported

M_DEAF1_3_HM_KO

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mice with a targeted homozygous disruption of exons 25 of both alleles of Deaf1 were produced and backcrossed onto a C57BL/6 background for seven generations.
Allele Type: Targeted(knockout)
Strain of Origin: Unreported
Genetic Background: C57BL/6
ES Cell Line: Unreported
Mutant ES Cell Line: Unreported
Model Source: Unreported

M_DEAF1_3_HT_KO

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Mice with a targeted heterozygous disruption of exons 25 of Deaf1 were produced and backcrossed onto a C57BL/6 background for seven generations.
Allele Type: Targeted(knockout)
Strain of Origin: Unreported
Genetic Background: C57BL/6
ES Cell Line: Unreported
Mutant ES Cell Line: Unreported
Model Source: Unreported

M_DEAF1_4_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 2-5 of Deaf1 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: Unreported
Genetic Background: C57BL/6
ES Cell Line: Unreported
Mutant ES Cell Line: Unreported
Model Source: Unreported

M_DEAF1_4_CKO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Conditional heterozygous deletion of exons 2-5 of Deaf1 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: Unreported
Genetic Background: C57BL/6
ES Cell Line: Unreported
Mutant ES Cell Line: Unreported
Model Source: Unreported

M_DEAF1_5_HM_KO

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mice with a targeted homozygous disruption of exons 25 of both alleles of Deaf1 were produced and backcrossed onto a BALB/c background for seven generations.
Allele Type: Targeted(knockout)
Strain of Origin: Unreported
Genetic Background: BALB/c
ES Cell Line: Unreported
Mutant ES Cell Line: Unreported
Model Source: Unreported

M_DEAF1_1_HM_KO

Model Type: Genetic
Model Genotype: Homozygous
Mutation: First, third and later generation mice harboring homozygous null deletion of Deaf1 on a mixed background.
Allele Type: Targeted(knockout)
Strain of Origin: C57BL6
Genetic Background: C57Bl/6*BALB/c
ES Cell Line: Unreported
Mutant ES Cell Line: Unreported
Model Source: Charles River Laboratories, Montreal, Canada

M_DEAF1_1_HT_KO

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: First generation mice harboring heterozygous null deletion of Deaf1 on a mixed background.
Allele Type: Targeted
Strain of Origin: C57BL6
Genetic Background: C57Bl/6*BALB/c
ES Cell Line: Unreported
Mutant ES Cell Line: Unreported
Model Source: Charles River Laboratories, Montreal, Canada

M_DEAF1_6_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain development1
Decreased
Description: Deaf1 conditional homozygous knockout mice showed increased frequency of exencephaly (cranial neural tube closure) than wildtype mice
Exp Paradigm: Presence of open cranial neural tube recorded
 General observations
 E18.5, P0
Skeletal development1
Decreased
Description: Deaf1 homozygous conditional knockout mice showed abnormalities in the rib cage, cervical vertebrae, attachment of the 8th rib to the sternum, bifurcated or fused ribs, fusion of the first and second ribs, aberrant attachment of anterior tubercules to cervical vertebrae and mis-attachment of the anterior tubercule to C7 instead of C6, compared to controls
Exp Paradigm: Alcian blue or alizarin red staining
 Immunohistochemistry
 E9.5, E18.5
Mortality/lethality: neonatal1
Increased
Description: Deaf1 homozygous conditional knockout mice without exencephaly (cranial neural tube closure) survived to the same frequency as wildtype mice, as expected by Mendelian ratios. Exencephalic mice died shortly after birth.
Exp Paradigm: Males and females
 Survival analysis
 P0
Targeted expression1
Decreased
Description: Deaf1 conditional homozygous knockout mice showed no Deaf1 protein compared to controls
Exp Paradigm: 30g total protein lysate was used for western
 Western blot
 E16.5
Skeletal development1
 No Change
 Immunohistochemistry
 E9.5
Morphology of cranial nerves1
 No Change
 Immunohistochemistry
 E9.5
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

M_DEAF1_6_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain development1
Decreased
Description: Deaf1 conditional heterozygous knockout mice showed increased frequency of exencephaly (increased cranial neural tube closure) than wildtype mice
Exp Paradigm: Presence of open cranial neural tube recorded
 General observations
 E18.5, P0
Skeletal development1
Decreased
Description: Deaf1 heterozygous conditional knockout mice showed bifurcation and fusion of the eighth and ninth ribs, fusion of the first and second ribs, aberrant attachment of anterior tubercules to cervical vertebrae, mis-attachment of the anterior tubercule to C5 and aberrant attachment of the first rib to C7 instead of T1, compared to control
Exp Paradigm: Alcian blue or alizarin red staining
 Immunohistochemistry
 E9.5
Targeted expression1
Decreased
Description: Deaf1 conditional heterozygous knockout mice showed reduced Deaf1 protein compared to controls
Exp Paradigm: 30g total protein lysate was used for western
 Western blot
 E16.5
Mortality/lethality1
 No Change
 Survival analysis
 P0
Skeletal development1
 No Change
 Immunohistochemistry
 E9.5
Morphology of cranial nerves1
 No Change
 Immunohistochemistry
 E9.5
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

M_DEAF1_3_HM_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Deaf1 homozygous knockout mice died 100% of time compared to wildtype mice
Exp Paradigm: Males and females
 Survival analysis
 P0
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

M_DEAF1_3_HT_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
 No Change
 Survival analysis
 P0
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

M_DEAF1_4_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Anxiety1
Increased
Description: Deaf1 conditional homozygous knockout mice showed increased anxiety compared to controls
Exp Paradigm: Males only-Elevated plus maze test
 Elevated plus maze test
 4 months
Anxiety1
Increased
Description: Deaf1 conditional homozygous knockout mice showed increased anxiety compared to controls
Exp Paradigm: Males only- Open field test
 Open field test
 4 months
Spatial working memory1
Increased
Description: Deaf1 conditional homozygous knockout mice showed enhanced ability at finding a submerged platform moved to the opposite quadrant than control mice at 48 hours after training with a visible platform. On subsequent trials learning curves were similar to controls.
Exp Paradigm: Males only
 Morris water maze test
 7 months
Cued or contextual fear conditioning: Memory of context1
Decreased
Description: Deaf1 conditional homozygous knockout mice showed reduced freezing behavior in response to footshock, compared to controls
Exp Paradigm: Males only
 Fear conditioning test
 7 months
Depression1
 No Change
 Forced swim test
 4 months
Depression1
 No Change
 Sucrose preference test
 4 months
Spatial learning1
 No Change
 Morris water maze test
 7 months
Spatial reference memory1
 No Change
 Morris water maze test
 7 months
Motor coordination and balance1
 No Change
 Accelerating rotarod test
 7 months
Pain or nociception1
 No Change
 Foot shock test
 7 months
Vision1
 No Change
 Morris water maze test: visible platform
 7 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Homeostasis, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Social behavior

M_DEAF1_4_CKO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cued or contextual fear conditioning: Memory of context1
Decreased
Description: Deaf1 conditional heterozygous knockout mice showed reduced freezing behavior in response to footshock, compared to controls
Exp Paradigm: Males only
 Fear conditioning test
 7 months
Targeted expression1
Decreased
Description: Deaf1 conditional heterozygous knockout mice showed 11 to 49 fold reductions of Deaf1 mRNA transcript in various regions of the brain (frontal cortex, hippocampus, midbrain, temporal cortex, cerebellum) compared to controls
Exp Paradigm: Males only
 Quantitative PCR (qRT-PCR)
 Adult
Mortality/lethality1
 No Change
 Survival analysis
 P0
Anxiety1
 No Change
 Open field test
 4 months
Anxiety1
 No Change
 Elevated plus maze test
 4 months
Depression1
 No Change
 Forced swim test
 4 months
Depression1
 No Change
 Sucrose preference test
 4 months
Spatial learning1
 No Change
 Morris water maze test
 7 months
Spatial reference memory1
 No Change
 Morris water maze test
 7 months
Spatial working memory1
 No Change
 Morris water maze test
 7 months
Motor coordination and balance1
 No Change
 Accelerating rotarod test
 7 months
Vision1
 No Change
 Morris water maze test: visible platform
 7 months
 Not Reported: Circadian sleep/wake cycle, Communications, Homeostasis, Immune response, Maternal behavior, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Social behavior

M_DEAF1_5_HM_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Deaf1 homozygous knockout mice survived 3% of the time compared to wildtype mice
Exp Paradigm: Males and females
 Survival analysis
 P0
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

M_DEAF1_1_HM_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuroreceptor levels: serotonin1
Increased
Description: Deaf1 homozygous null mice show increased serotonin 1A autoreceptor levels compared to controls
Exp Paradigm: Males and females, autoradiography using the selective 5-HT1A antagonist 125I-MPPI
 Immunofluorescence staining: dorsal and medial raphe
 2.2 weeks
Neuroreceptor levels: serotonin1
Increased
Description: Deaf1 homozygous null mice of the third generation and later show increased serotonin 1A autoreceptor levels compared to controls
Exp Paradigm: Males and females
 Immunofluorescence staining: dorsal and medial raphe
 2.2 weeks
Neuroreceptor activity1
Decreased
Description: Deaf1 homozygous null male and female mice of the third generation and later show 5-HT1A receptor-mediated outward currents of similar magnitude in recordings from raphe 5-HT neurons as in wild-type mice, however examining the dataset for sex-specific alterations in the responsiveness of 5-HT1A receptors show a 60% reduction in male Deaf1 KO mice only, indicating functional activity of 5-HT1A autoreceptors present in Deaf1 homozygous null mice declines over generations, despite increased abundance of 5-HT1A autoreceptors, no difference was observed in Deaf1 KO females
Exp Paradigm: Effects of bath administration of the 5-HT1A agonist 5-CT (100 nM) was monitored, males and females
 Whole-cell patch clamp
 1.6-1.8 months
Anxiety1
Increased
Description: In open field test, male Deaf1 KO mice avoid the centre, In the light-dark test, male Deaf1 KO mice showed reduced time in the light and increased latency to enter the dark chamber, consistent with an anxiety phenotype, overall two of three tests show male Deaf1 KO mice have increased anxiety compared to wildtype controls, In the elevated plus maze female DEAF1 mice showed a 75% increased reduction in time spent in open arms compared to wildtype mice,
Exp Paradigm: Open and closed arm time was monitored by overhead camera-Open field test
 Open field test
 1.6-1.8 months
Anxiety1
Increased
Description: In open field test, male Deaf1 KO mice avoid the centre, In the light-dark test, male Deaf1 KO mice showed reduced time in the light and increased latency to enter the dark chamber, consistent with an anxiety phenotype, overall two of three tests show male Deaf1 KO mice have increased anxiety compared to wildtype controls, In the elevated plus maze female DEAF1 mice showed a 75% increased reduction in time spent in open arms compared to wildtype mice,
Exp Paradigm: Open and closed arm time was monitored by overhead camera- Light-dark exploration test
 Light-dark exploration test: Light-dark exploration test
 1.6-1.8 months
Anxiety1
Decreased
Description: In the light-dark test the female Deaf1 knockouts spent more time in the light compared to wildtypes suggesting reduced anxiety
Exp Paradigm: Movement within the compartments was detected using infrared transmitters
 Light-dark exploration test: Light-dark exploration test
 1.6-1.8 months
Anxiety1
 No Change
 Light-dark exploration test: Light-dark exploration test
 1.6-1.8 months
Anxiety1
 No Change
 Open field test
 1.6-1.8 months
Anxiety1
 No Change
 Elevated plus maze test
 1.6-1.8 months
Depression1
 No Change
 Sucrose preference test
 1.6-1.8 months
Depression1
 No Change
 Tail suspension test
 1.6-1.8 months
Depression1
 No Change
 Forced swim test
 1.6-1.8 months
General locomotor activity1
 No Change
 Novel cage test
 1.6-1.8 months
Neuroreceptor levels: serotonin1
 No Change
 Immunofluorescence staining: hippocampus
 2.2 weeks
Hypothermia1
 No Change
 Body temperature measurement
 1.6-1.8 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Repetitive behavior, Seizure, Sensory, Social behavior

M_DEAF1_1_HT_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuroreceptor levels: serotonin1
Increased
Description: Deaf1 heterozygous null mice show increased serotonin 1A autoreceptor levels compared to controls
Exp Paradigm: Males and females
 Immunofluorescence staining: dorsal and medial raphe
 2.2 weeks
Neuroreceptor levels: serotonin1
 No Change
 Immunofluorescence staining: hippocampus
 2.2 weeks
Hypothermia1
 No Change
 Body temperature measurement
 1.6-1.8 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 7965 Q13155 Y2H
Vinayagam A , et al. 2011
ASCC2 activating signal cointegrator 1 complex subunit 2 84164 Q9H1I8 Y2H
Stelzl U , et al. 2005
BSPRY B box and SPRY domain-containing protein 54836 Q5W0U4 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDC37 cell division cycle 37 11140 Q16543 Y2H
Vinayagam A , et al. 2011
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1026 P38936 Y2H
Vinayagam A , et al. 2011
CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 1029 P42771 Y2H; IP/WB
Wang J , et al. 2011
FHL1 four and a half LIM domains 1 2273 Q13642 Y2H
Vinayagam A , et al. 2011
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GDF5 growth differentiation factor 5 8200 P43026 EMSA
Reynard LN , et al. 2014
GSK3A glycogen synthase kinase 3 alpha 2931 P49840 Y2H; GST; IP/WB; Luciferase reporter assay; in vitro kinase assay
Pilot-Storck F , et al. 2010
GSK3B glycogen synthase kinase 3 beta 2932 P49841 Y2H; GST; IP/WB; Luciferase reporter assay; in vitro kinase assay
Pilot-Storck F , et al. 2010
HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 3265 P01112 Y2H
Vinayagam A , et al. 2011
HRSP12 heat-responsive protein 12 10247 P52758 Y2H
Wang J , et al. 2011
IRF3 interferon regulatory factor 3 3661 Q14653 IP/WB
Ordureau A , et al. 2013
IRF7 interferon regulatory factor 7 3665 Q92985 IP/WB
Ordureau A , et al. 2013
PELI1 pellino E3 ubiquitin protein ligase 1 57162 Q53T26 IP/WB
Ordureau A , et al. 2013
PELI2 pellino E3 ubiquitin protein ligase family member 2 57161 Q9H716 Y2H
Wang J , et al. 2011
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 5300 Q13526 Y2H
Vinayagam A , et al. 2011
PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme 5499 P62136 Y2H
Esteves SL , et al. 2012
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme 5501 P36873 Y2H
Esteves SL , et al. 2012
RAD23B RAD23 homolog B (S. cerevisiae) 5887 P54727 Y2H
Vinayagam A , et al. 2011
TK1 thymidine kinase 1, soluble 7083 P04183 Y2H
Vinayagam A , et al. 2011
DEAF1 deformed epidermal autoregulatory factor 1 (Drosophila) 54006 Q9Z1T5 Y2H; SEC-MALLS
Cubeddu L , et al. 2012
LMO4 LIM domain only 4 16911 P61969 GST; IP/WB; Y2H
GST; IP/WB; Y2H; SEC-MALLS
GST; IP/WB; Y2H
Y2H; SEC-MALLS
Sugihara TM , et al. 1998
EHMT1 G9a 30971 Q95RU8 ChIP-Seq
Kramer JM , et al. 2011

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