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Relevance to Autism

Brattleboro rats, which have a spontaneous mutation disrupting the AVP gene, were shown to display a natural deficit in social discrimination that could be reversed by treatment with clozapine or a neurotensin analog (Feifel et al., 2009). One of the receptors for arginine vasopressin is the protein encoded by the ASD-associated gene AVPR1.

Molecular Function

This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products, including the neuropeptide hormone arginine vasopressin. Arginine vasopressin plays a role in many biological processes, including cognition, tolerance, adaptation and complex sexual and maternal behaviour.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The brattleboro rat displays a natural deficit in social discrimination that is restored by clozapine and a neurotensin analog.
Positive Association
Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes.
ASD
Support
The vasopressin precursor in the Brattleboro (di/di) rat.
Support
Atypical Social Development in Vasopressin-Deficient Brattleboro Rats.

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN788C001 
 intergenic_variant 
 rs2740204 
  
  
 207 probands (156 trios) 
 Discovery 
 GEN788C002 
 intergenic_variant 
 rs1410713 
  
  
 207 probands (156 trios) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
20
Deletion-Duplication
 33
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 1
 
20
Duplication
 3
 
20
Duplication
 1