| Primary Identifier | MGI:87886 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 110902 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable acetylcholine-gated monoatomic cation-selective channel activity; heterocyclic compound binding activity; and quaternary ammonium group binding activity. Predicted to contribute to acetylcholine receptor activity. Predicted to be involved in several processes, including cellular response to nicotine; modulation of inhibitory postsynaptic potential; and synaptic signaling. Predicted to act upstream of or within monoatomic ion transport. Located in cell periphery. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and spinal cord. Human ortholog(s) of this gene implicated in autosomal dominant nocturnal frontal lobe epilepsy 4 and benign familial infantile seizures 6. Orthologous to human CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit). PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. Homozygosity for KO or the p.L282S mutation affects synaptic transmission and long term potentiation and leads to impaired contextual fear conditioning behavior. [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
