| Primary Identifier | MGI:99459 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 110784 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables steroid binding activity. Involved in several processes, including angiotensin-activated signaling pathway; regulation of blood volume by renal aldosterone; and regulation of potassium:proton exchanging ATPase activity. Acts upstream of or within intracellular sodium ion homeostasis and renal sodium excretion. Is active in GABA-ergic synapse and glutamatergic synapse. Is expressed in several structures, including central nervous system; genitourinary system; intestine; and trophectoderm. Used to study autosomal dominant pseudohypoaldosteronism type 1. Human ortholog(s) of this gene implicated in autosomal dominant pseudohypoaldosteronism type 1 and pseudohypoaldosteronism. Orthologous to human NR3C2 (nuclear receptor subfamily 3 group C member 2). PHENOTYPE: Mice homozygous for a targeted null mutation exhibit weight loss and symptoms of pseudohypoaldosteronism, and eventually die at around day 10 after birth from renal salt wasting and dehydration. [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
