| 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 8.0.0) Enables chloride channel activity. Involved in transepithelial chloride transport. 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] |
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
