Primary Identifier | MGI:106250 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 226090 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable metal ion binding activity and metalloexopeptidase activity. Predicted to be involved in cellular response to oxidative stress; ovarian follicle development; and proteolysis. Predicted to act upstream of or within endoplasmic reticulum unfolded protein response. Predicted to be located in endoplasmic reticulum and membrane. Is expressed in several structures, including alimentary system; brain; connective tissue; genitourinary system; and sensory organ. Orthologous to human ERMP1 (endoplasmic reticulum metallopeptidase 1). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. [provided by MGI curators] |