Primary Identifier | MGI:2664387 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 214766 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable metalloendopeptidase activity. Involved in determination of heart left/right asymmetry. Acts upstream of or within coronary vasculature development and hematopoietic progenitor cell differentiation. Predicted to be located in extracellular matrix and extracellular region. Is expressed in brain; cerebral cortex; embryo; and liver. Used to study visceral heterotaxy. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human MMP21 (matrix metallopeptidase 21). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect. [provided by MGI curators] |