| 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 8.0.0) Enables voltage-gated chloride channel activity. Involved in chloride transport; regulation of resting membrane potential; and stabilization of membrane potential. Acts upstream of or within acinar cell differentiation; cell differentiation involved in salivary gland development; and retina development in camera-type eye. Located in astrocyte end-foot; basolateral plasma membrane; and myelin sheath. 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] |
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
