Primary Identifier | MGI:1923751 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 76501 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within cholesterol homeostasis. Predicted to be located in Golgi apparatus; cytosol; and nucleoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and skeleton. Orthologous to human COMMD9 (COMM domain containing 9). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, neural tube edema, and cardiovascular abnormalities including hemorrhages, heart hypoplasia, focal myocardial wall necrosis and narrowing of the dorsal aortas, and alterations in cranial blood vessels. [provided by MGI curators] |