Primary Identifier | MGI:88176 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 12153 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables metalloendopeptidase activity. Predicted to be involved in dorsal/ventral pattern formation and protein processing. Predicted to act upstream of or within positive regulation of cartilage development. Located in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; heart; and reproductive system. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 13. Orthologous to human BMP1 (bone morphogenetic protein 1). PHENOTYPE: Homozygous targeted mutant embryos have reduced ossification of the skull, persistent herniation of the gut, abnormal collagen fibrils in the amnion, and die at birth. [provided by MGI curators] |