Primary Identifier | MGI:1197013 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 19414 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable intracellularly gated calcium channel activity. Predicted to be involved in intracellular signal transduction; negative regulation of Ras protein signal transduction; and platelet activation. Predicted to act upstream of or within cellular response to heat. Predicted to be located in cytoplasmic side of plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and neural retina. Used to study aplastic anemia. Orthologous to human RASA3 (RAS p21 protein activator 3). PHENOTYPE: Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump. [provided by MGI curators] |