| Primary Identifier | MGI:95621 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 14402 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables GABA-A receptor activity and transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in several processes, including chloride transmembrane transport; inner ear development; and nervous system development. Acts upstream of or within several processes, including cellular response to zinc ion; circadian sleep/wake cycle, REM sleep; and learning or memory. Part of GABA-A receptor complex. Is active in GABA-ergic synapse and cell surface. Is expressed in several structures, including central nervous system; eye; jaw; and olfactory epithelium. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in childhood absence epilepsy and developmental and epileptic encephalopathy 43. Orthologous to human GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3). PHENOTYPE: Homozygous null mutants die at birth with cleft palate. Survivors show delayed growth, reduced lifespan, seizures, ataxia, hyperactivity, hyperresponsiveness and reduced learning, mothering ability and REM sleep. A point mutation lowers anesthetic effect. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
