Primary Identifier | MGI:101924 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 20496 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables potassium ion transmembrane transporter activity. Involved in several processes, including cellular response to lipopolysaccharide; cellular response to potassium ion; and inorganic ion transmembrane transport. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; mammary gland duct morphogenesis; and regulation of secretion by cell. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and neuronal cell body. Is expressed in several structures, including alimentary system; lung; metanephros; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 78 and middle cerebral artery infarction. Orthologous to human SLC12A2 (solute carrier family 12 member 2). PHENOTYPE: Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality. [provided by MGI curators] |