| Primary Identifier | MGI:96673 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 16509 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables potassium channel regulator activity. Involved in potassium ion transmembrane transport; secretory granule organization; and vestibular nucleus development. Acts upstream of or within epithelial cell maturation; heart contraction; and regulation of heart rate by cardiac conduction. Part of voltage-gated potassium channel complex. Is active in apical plasma membrane. Is expressed in several structures, including ear; embryo ectoderm; genitourinary system; great vessel of heart; and heart. Used to study Jervell-Lange Nielsen syndrome. Human ortholog(s) of this gene implicated in Jervell-Lange Nielsen syndrome; atrial fibrillation; long QT syndrome; and long QT syndrome 5. Orthologous to human KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1). PHENOTYPE: Homozygotes for targeted and spontaneous null mutations exhibit head-shaking, circling, ataxia, and severe deafness associated with inner ear defects. Older mutants show increased numbers of T cells. Study of cardiac myocytes in one line revealed physiologic defects. [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
