Primary Identifier | MGI:96659 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 16490 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables voltage-gated potassium channel activity. Involved in potassium ion transmembrane transport; regulation of circadian sleep/wake cycle, non-REM sleep; and regulation of dopamine secretion. Acts upstream of or within optic nerve structural organization. Located in several cellular components, including axon; neuronal cell body membrane; and perikaryon. Part of voltage-gated potassium channel complex. Is active in axon initial segment. Is expressed in several structures, including brain; heart ventricle; and hindlimb muscle. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 32. Orthologous to human KCNA2 (potassium voltage-gated channel subfamily A member 2). PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, increased susceptibility to spontaneous and chemically-induced seizures and altered neuron electrophysiology. Mice homozygous for an ENU-induced allele exhibit abnormal gait, impaired coordination, and premature lethality. [provided by MGI curators] |