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Relevance to Autism

Deletion of IFNGR1 in PFC neurons resulted in deficits in social behavior in mice as measured by the three-chamber social task (Filiano et al., 2016).

Molecular Function

This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Ligand binding stimulates activation of the JAK/STAT signaling pathway

External Links

        

References

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

Rare

No Rare Variants Available

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
6
Deletion-Duplication
 9
 

Model Summary

Ifngr1 knockout specifically from the prefrontal cortex causes impaired sociability in mice.

References

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

M_IFNGR1_1_CKO_HM_PFC

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exon 3 and 4 of the Ifngr1 gene using AAV-cre under synapsin I, stereotaxically injected into the prefrontal cortex (bilaterally) in adult mice, leading to loss of Ifngr1 specifically from prefrontal cortex (PFC) neurons abolishing Ifn-gamma signalling. The injected mice were tested 3 weeks after injection.
Allele Type: Conditional loss-of-function
Strain of Origin:
Genetic Background: C57Bl/6
ES Cell Line:
Mutant ES Cell Line:
Model Source: JAX

M_IFNGR1_1_CKO_HM_PFC

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Social approach1
Decreased
Description: Mice with loss of ifngr1 and attentuation of ifngamma signaling specifically from the prefrontal cortex neurons have impaired social approach and show no preference for stimulus mouse over an object in the three chamber social approach test
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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