| 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 8.0.0) Predicted to enable intracellular sodium-activated potassium channel activity and outward rectifier potassium channel activity. Involved in regulation of postsynaptic membrane potential. Located in plasma membrane. 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
