| Primary Identifier | MGI:98246 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20265 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables voltage-gated sodium channel activity. Involved in detection of mechanical stimulus involved in sensory perception of pain and membrane depolarization during action potential. Acts upstream of or within several processes, including adult walking behavior; determination of adult lifespan; and neuronal action potential. Located in several cellular components, including T-tubule; Z disc; and main axon. Part of sodium channel complex. Is expressed in several structures, including heart and nervous system. Used to study Dravet syndrome; autism spectrum disorder; and generalized epilepsy with febrile seizures plus. Human ortholog(s) of this gene implicated in Dravet syndrome; developmental and epileptic encephalopathy 6B; familial hemiplegic migraine 3; generalized epilepsy with febrile seizures plus; and generalized epilepsy with febrile seizures plus 2. Orthologous to human SCN1A (sodium voltage-gated channel alpha subunit 1). PHENOTYPE: Homozygous null mice show postnatal lethality, seizures and behavioral deficits whereas heterozygotes die prematurely with seizures and abnormal electrophysiology. In addition, knock-in mice exhibit increased susceptibility to febrile and flurothyl-induced seizures, and reduced inhibitory signaling. [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
