Primary Identifier | MGI:97860 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 218397 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including GTPase activator activity; enzyme binding activity; and phosphotyrosine residue binding activity. Predicted to be involved in several processes, including cellular response to epidermal growth factor stimulus; cellular response to platelet-derived growth factor stimulus; and positive regulation of D-glucose import. Located in plasma membrane and ruffle. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in arteriovenous malformation and basal cell carcinoma. Orthologous to human RASA1 (RAS p21 protein activator 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced embryonic growth associated with defects of both yolk sac and embryonic vascular systems resulting in lethality by embryonic day 10.5. Mice homozygous for a knock-in allele exhibit increased sensitivity to induced cell death and colitis. [provided by MGI curators] |