| 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 9.1.0) 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 generalized epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 19. 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
