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).
MGI Description
PHENOTYPE: Homozygous null mice die during embryonic development with vasculature defects in the heart and placenta. [provided by MGI curators]