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Relevance to Autism

Deletion of STAT1 from GABAergic inhibitory neurons resulted in deficits in social behavior in mice as measured by the three-chamber social task (Filiano et al., 2016). A novel and predicted damaging de novo missense variant in this gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014).

Molecular Function

This gene encodes a signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Unexpected role of interferon- in regulating neuronal connectivity and social behaviour.
Support
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half
ASD
ADHD, OCD, learning disability
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN842R001 
 missense_variant 
 c.1246G>A 
 p.Gly416Ser 
 De novo 
  
 Simplex 
 GEN842R002 
 missense_variant 
 c.2173C>T 
 p.Pro725Ser 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Deletion
 2
 
2
Deletion
 1
 
2
Deletion
 1
 
2
Duplication
 1
 
2
Duplication
 2
 
2
Duplication
 1
 

Model Summary

Stat1 conditional knockout from gabaergic neurons causes mice to be impaired in socialibility, Stat1 homozygous null mice have impaired growth and are susceptible to viral diseases.

References

Type
Title
Author, Year
Primary
Unexpected role of interferon- in regulating neuronal connectivity and social behaviour.

M_STAT1_1_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of first two untranslated exons and the first translated exon of the Stat1 gene using Cx3cr1-cre, from all cells of myeloid origin including microglia that are known to express Ifn-gamma receptor, as the importance of Ifn-gamma signaling in various neuronal types was being studied
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: C57Bl/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: JAX

M_STAT1_2_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of first two untranslated exons and the first translated exon of the Stat1 gene using Vgat-cre, in gabaergic inhibitory neurons and microglia
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: C57Bl/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: JAX

M_STAT1_1_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
 No change
 Three-chamber social approach test
 8-10 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_STAT1_2_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
Decreased
Description: Loss of stat1 from gabaergic inibitory neurons, attentuating ifn-gamma signaling in these neurons, impairs social behavior as the conditional knockouts show reduced preference to social stimulus over object
Exp Paradigm: NA
 Three-chamber social approach test
 8-10 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

 

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