| Primary Identifier | MGI:1924627 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 227632 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable intracellular sodium-activated potassium channel activity and outward rectifier potassium channel activity. Involved in regulation of postsynaptic membrane potential. Is active in postsynaptic density membrane. Is expressed in central nervous system; dorsal root ganglion; and genitourinary system. Used to study developmental and epileptic encephalopathy 14 and epilepsy. Human ortholog(s) of this gene implicated in autosomal dominant nocturnal frontal lobe epilepsy 5 and developmental and epileptic encephalopathy 14. Orthologous to human KCNT1 (potassium sodium-activated channel subfamily T member 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired action potential firing in sensory neurons and increased mechanical hypersensitivity in neuropathic pain models. Homozygosity for a gain-of-function mutation increases overall excitability of neurons and causes (nocturnal) seizures, hyperactivity and learning deficits. [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
