Primary Identifier | MGI:95619 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 14400 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential. Predicted to be involved in several processes, including cellular response to histamine; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Is active in GABA-ergic synapse and Schaffer collateral - CA1 synapse. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in autistic disorder and developmental and epileptic encephalopathy 45. Orthologous to human GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1). PHENOTYPE: Mice heterozygous for an ENU or spontaneous mutation exhibit alcohol preference with increased tonic inhibition, female infertility and hypothalamic pituitary axis dysfunction. [provided by MGI curators] |