Primary Identifier | MGI:1917700 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 70450 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable small GTPase binding activity. Involved in positive regulation of substrate adhesion-dependent cell spreading. Acts upstream of or within several processes, including defense response to symbiont; germinal center formation; and granuloma formation. Predicted to be located in Weibel-Palade body; cytosol; and lysosome. Predicted to be active in exocytic vesicle. Used to study familial hemophagocytic lymphohistiocytosis 3. Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 3. Orthologous to human UNC13D (unc-13 homolog D). PHENOTYPE: Targeted deletion of this gene leads to defective hemostasis, abrogated thrombus formation and protection of homozygotes from ischemic stroke in the absence of intracranial bleeding. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus. [provided by MGI curators] |