| Primary Identifier | MGI:1930643 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 56365 |
| 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 regulation of intracellular pH; renal absorption; and transepithelial chloride transport. Predicted to be located in basolateral plasma membrane. Predicted to be part of chloride channel complex. Predicted to be active in plasma membrane. Is expressed in early conceptus; metanephros; and oocyte. Used to study Bartter disease and Bartter disease type 3. 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: Mice homozygous for mutations in this gene display postnatal growth retardation with impaired renal function, polyuria, decreased urine osmolality, and increased urine prostoglandin levels. Mice homozygous for one null mutation display premature death. [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
