Primary Identifier | MGI:1921456 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 74206 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase activator activity. Involved in several processes, including epithelial cell morphogenesis; establishment of epithelial cell polarity; and eye development. Acts upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in several cellular components, including nucleoplasm; stress fiber; and tricellular tight junction. Predicted to be active in Golgi apparatus and plasma membrane. Is expressed in lens; lens anterior epithelium; lens fiber; lens vesicle; and lens vesicle anterior epithelium. Human ortholog(s) of this gene implicated in cataract 45. Orthologous to human SIPA1L3 (signal induced proliferation associated 1 like 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit small lenses, microphthalmia, cataracts, posterior iris synechia, and abnormal lens fiber morphology. [provided by MGI curators] |