Primary Identifier | MGI:88583 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 110115 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables corticosterone 18-monooxygenase activity. Acts upstream of or within glucocorticoid biosynthetic process. Located in mitochondrion. Is expressed in adrenal gland; gland; lung; and testis. Used to study congenital adrenal hyperplasia. Human ortholog(s) of this gene implicated in several diseases, including congenital adrenal hyperplasia; corticosterone methyloxidase deficiency 1; diabetes mellitus (multiple); hypertension (multiple); and primary hyperaldosteronism (multiple). Orthologous to human CYP11B1 (cytochrome P450 family 11 subfamily B member 1) and CYP11B2 (cytochrome P450 family 11 subfamily B member 2). PHENOTYPE: Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility. [provided by MGI curators] |