| Primary Identifier | MGI:108114 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 20497 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables sodium:chloride symporter activity. Involved in several processes, including response to aldosterone; response to dietary excess; and sodium ion transmembrane transport. Located in apical plasma membrane and cytosol. Is expressed in metanephros. Used to study Gitelman syndrome. Human ortholog(s) of this gene implicated in Gitelman syndrome and essential hypertension. Orthologous to human SLC12A3 (solute carrier family 12 member 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ductsdisplay thiazide-sensitive NaCl absorption. [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
