| Primary Identifier | MGI:1336181 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 110862 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calmodulin binding activity; potassium channel activity; and voltage-gated monoatomic ion channel activity. Acts upstream of or within several processes, including chemical synaptic transmission; establishment of protein localization; and nervous system development. Located in axon initial segment; node of Ranvier; and plasma membrane. Part of voltage-gated potassium channel complex. Is active in cell surface. Is expressed in several structures, including central nervous system; midgut; retina; and rib. Used to study benign neonatal seizures. Human ortholog(s) of this gene implicated in autistic disorder and benign neonatal seizures. Orthologous to human KCNQ3 (potassium voltage-gated channel subfamily Q member 3). PHENOTYPE: Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [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
