| 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 7.0.0) Predicted to enable identical protein binding activity and voltage-gated chloride channel activity. Predicted to be involved in chloride transport. Predicted to act upstream of or within monoatomic ion transmembrane transport. Predicted to be located in plasma membrane. Predicted to be part of chloride channel complex. 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
