| Primary Identifier | MGI:104720 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 15484 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 11-beta-hydroxysteroid dehydrogenase (NAD+) activity; NAD binding activity; and steroid binding activity. Acts upstream of or within female pregnancy. Predicted to be located in endoplasmic reticulum. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in several structures, including brain; ear; genitourinary system; hemolymphoid system; and trophectoderm. Human ortholog(s) of this gene implicated in apparent mineralocorticoid excess syndrome; hypertension; inherited metabolic disorder; obesity; and type 1 diabetes mellitus. Orthologous to human HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2). PHENOTYPE: About half of all mice homozygous for disruptions in this gene die within 48 hours of birth. Survivors are subject to sudden unexplained deaths when between 2 and 4 months of age. They are hypertensive with dilute urine and are hypokalemic and hypochloremic. [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
