| Primary Identifier | MGI:95613 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14394 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in inhibitory synapse assembly. Located in plasma membrane. Is active in GABA-ergic synapse. Is expressed in central nervous system; eye; palatal shelf; and submandibular gland primordium. Used to study idiopathic generalized epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 19 and idiopathic generalized epilepsy 13. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1). PHENOTYPE: Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission. [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
