Primary Identifier | MGI:103562 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 15483 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity. Acts upstream of or within lung development. Predicted to be located in apical part of cell; endoplasmic reticulum membrane; and nuclear membrane. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Used to study cortisone reductase deficiency 2. Human ortholog(s) of this gene implicated in cortisone reductase deficiency (multiple); hypertension (multiple); obesity; and type 2 diabetes mellitus. Orthologous to human HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1). PHENOTYPE: Mice homozygous for disruptions in this gene display improved glucose tolerance and lower circulating lipid levels. Mice homozygous for a different targeted allele exhibit decreased susceptibility to weight gain, adiposis or hyperinsulinemia induced by 11-DHC. [provided by MGI curators] |