A DRD1 haplotype was found to be associated with risk for autism spectrum disorders in male-only affected sib-pair families (Hettinger et al., 2008).
Molecular Function
This gene encodes the D1 subtype of the dopamine receptor, the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families.
The dopamine D1 receptor knockout rat model was generated by N-ethyl-N-nitrosurea (ENU)-driven target-selected mutagenesis. The mutation is an amino acid substitution (I116S) that renders the receptor less stable, leading to decreased transmembrane insertion. The mutant rats display normal basic motoric and neurological parameters, as well as locomotor activity and anxiety-like behaviour. However, measures of social cognition like social interaction, scent marking, pup ultrasonic vocalizations and sociability, are strongly reduced in the mutant rats.
References
Type
Title
Author, Year
Primary
The role of the dopamine D1 receptor in social cognition: studies using a novel genetic rat model.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
ENU mutagenesis.
Allele Type: Chemical mutation
Strain of Origin: Sprague Dawley
Genetic Background: Sprague Dawley
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
Bilateral intracerebral injection of Drd1 siRNA (200 microM) in the nucleus accumbens of P22 female rats
Allele Type: Knockdown
Strain of Origin: Sprague Dawley
Genetic Background: Sprague Dawley
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source:
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
Bilateral intracerebral injection of Drd1 siRNA (200 microM) in the nucleus accumbens of P30 male rats
Allele Type: Knockdown
Strain of Origin: Sprague Dawley
Genetic Background: Sprague Dawley
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source:
Description: Ablated D1 receptor antagonist-dependent increase of hindlimb retraction time, but no effect on forelimb retraction time increase
Exp Paradigm: Paw retraction test
