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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
 

R_AVP_1_KO_HM_CLOZAPINE-15

Rescue Type: RESCUE-Pharmaceutical
Rescue Paradigm: Spontaneous Brattleboro mutation, 15 mg/kg subcutaneous, 30 min before behavioral test.

R_AVP_1_KO_HM_CLOZAPINE-15

Category
Entity
Effect on phenotype Qualification
Restored Treatment improves measured phenotype significantly
Refractory Treatment does not improve measured phenotype (was expected to do so)
Ameliorated Treatment provides partial correction or improvement of measured phenotype
No adverse effect Treatment does not affect the parameter adversely
Sustained effect Treatment has long term effect of restoration or amelioration, tested AFTER stopping administration (not applied for continuing long-term treatment) . Will be applied only where treatment has had restorative effects during administration or in the first battery of tests conducted.
No sustained effect Treatment has no long term of restoration or amelioration detectable, after stopping administration. Will be applied only where treatment has had restorative effects during administration or in the first battery of tests conducted.
Unexpected results Treats an unexpected phenotype
Side effect Exaggerates an unexpected phenotype
Experimental Paradigm
Age at Testing
Sensorimotor gating1
Restored
Description: 15 mg/kg clozapine restores PPI
Exp Paradigm: Prepulse inhibition
 Prepulse inhibition
 2-3 months
Startle response: acoustic stimulus1
No adverse effect
Description: 15 mg/kg clozapine has no significant effect on startle response
Exp Paradigm: Acoustic startle reflex test
 Acoustic startle reflex test
 2-3 months
 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, Social behavior

R_AVP_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
 Sensorimotor gating1
 Decreased
Description: Decreased prepulse inhibition
Exp Paradigm: Prepulse inhibition
 Prepulse inhibition
 2-3 months
 Startle response: acoustic stimulus1
 Increased
Description: In haloperidol experiment, increased startle response, in clozapine and PD149163 experiments, no change in startle response
Exp Paradigm: Acoustic startle reflex test
 Acoustic startle reflex test
 2-3 months
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 2-3 months
 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, Social behavior

 

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