Primary Identifier | MGI:2384924 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 216527 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including circulatory system development; endothelial cell development; and in utero embryonic development. Part of protein-containing complex. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; gonad; and retina layer. Used to study cerebral cavernous malformation 2. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein). PHENOTYPE: Homozygous null mice die during embryonic development with vasculature defects in the heart and placenta. [provided by MGI curators] |