Primary Identifier | MGI:104744 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 16518 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity and inward rectifier potassium channel activity. Acts upstream of or within cardiac muscle cell action potential and magnesium ion transport. Predicted to be located in several cellular components, including T-tubule; dendritic spine; and intercalated disc. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in glutamatergic synapse and postsynaptic membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in Andersen-Tawil syndrome; familial atrial fibrillation; familial periodic paralysis; and short QT syndrome. Orthologous to human KCNJ2 (potassium inwardly rectifying channel subfamily J member 2). PHENOTYPE: Mice homozygous for a targeted null mutation die within 8-12 hours after birth, displaying cyanosis and respiratory distress, as well as complete cleft of the secondary palate, and loss of K+-mediated vasodilatation in cerebral arteries. [provided by MGI curators] |