| Primary Identifier | MGI:108083 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 16535 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables voltage-gated potassium channel activity. Involved in several processes, including inner ear development; metal ion transport; and regulation of heart contraction. Acts upstream of or within digestive system process and membrane repolarization during ventricular cardiac muscle cell action potential. Located in apical plasma membrane and lumenal side of membrane. Part of voltage-gated potassium channel complex. Is active in several cellular components, including basolateral part of cell; ciliary base; and neuronal cell body. Is expressed in several structures, including alimentary system; extraembryonic component; heart; hemolymphoid system gland; and reproductive system. Used to study Jervell-Lange Nielsen syndrome and long QT syndrome 1. Human ortholog(s) of this gene implicated in heart conduction disease (multiple); long QT syndrome (multiple); and type 2 diabetes mellitus. Orthologous to human KCNQ1 (potassium voltage-gated channel subfamily Q member 1). PHENOTYPE: Homozygous targeted null or spontaneous mutants show circling and head-tossing behavior and are deaf with inner ear dysmorphology. Paternal inheritance of a deletion of an imprinted control region within an intron of this gene results in small body size. [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
