Primary Identifier | MGI:105061 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 12724 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables voltage-gated chloride channel activity. Acts upstream of or within acinar cell differentiation; cell differentiation involved in salivary gland development; and retina development in camera-type eye. Predicted to be located in dendrite; perikaryon; and plasma membrane. Predicted to be part of chloride channel complex. Is expressed in several structures, including central nervous system; gonad; hindlimb phalanx; notochord; and visual system. Used to study leukodystrophy and primary hyperaldosteronism. Human ortholog(s) of this gene implicated in idiopathic generalized epilepsy 11 and primary hyperaldosteronism. Orthologous to human CLCN2 (chloride voltage-gated channel 2). PHENOTYPE: Mice homozygous for a null allele exhibit abnormal brain morphology, male infertility, and abnormal eye morphology. [provided by MGI curators] |