Primary Identifier | MGI:87891 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 11444 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acetylcholine-gated monoatomic cation-selective channel activity. Involved in presynaptic modulation of chemical synaptic transmission. Acts upstream of or within several processes, including learning or memory; nervous system development; and regulation of circadian sleep/wake cycle, sleep. Located in external side of plasma membrane. Part of acetylcholine-gated channel complex. Is active in cholinergic synapse; dopaminergic synapse; and synaptic membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study attention deficit hyperactivity disorder; autism spectrum disorder; and autosomal dominant nocturnal frontal lobe epilepsy 3. Human ortholog(s) of this gene implicated in autosomal dominant nocturnal frontal lobe epilepsy and autosomal dominant nocturnal frontal lobe epilepsy 3. Orthologous to human CHRNB2 (cholinergic receptor nicotinic beta 2 subunit). PHENOTYPE: Homozygotes for targeted null mutations have impaired responses to nicotine, but show improved passive avoidance behavior. With age, mutants show more neurodegeneration and alterations of the visual system, with decreased cortical visual acuity. [provided by MGI curators] |