| Primary Identifier | MGI:103150 | Organism | Mus musculus |
| Chromosome | 2 | NCBI Gene Number | 20495 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 3.2) Exhibits sodium:potassium:chloride symporter activity. Involved in several processes, including cellular hyperosmotic salinity response; excretion; and positive regulation of calcineurin-NFAT signaling cascade. Localizes to apical plasma membrane. Is expressed in several structures, including alimentary system and urinary system. Used to study Bartter disease type 1. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Orthologous to human SLC12A1 (solute carrier family 12 member 1). PHENOTYPE: Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations. [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
