Primary Identifier | MGI:1329026 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 12733 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable identical protein binding activity and voltage-gated chloride channel activity. Acts upstream of or within regulation of body fluid levels and renal inner medulla development. Located in basolateral plasma membrane. Is expressed in early conceptus; gonad; inner ear; metanephros; and thyroid gland. Used to study nephrogenic diabetes insipidus. Human ortholog(s) of this gene implicated in Bartter disease type 3; Bartter disease type 4b; Gitelman syndrome; hypertension; and sensorineural hearing loss. Orthologous to several human genes including CLCNKB (chloride voltage-gated channel Kb). PHENOTYPE: Homozygous mutation of this gene results in increased urine volume and decreased urine osmolarity. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to DSS-induced colitis. [provided by MGI curators] |