Primary Identifier | MGI:97614 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 18799 |
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 activating protein binding activity; inositol 1,4,5 trisphosphate binding activity; and phospholipid binding activity. Acts upstream of or within angiogenesis; labyrinthine layer blood vessel development; and regulation of cell population proliferation. Located in cytosol. Is expressed in several structures, including alimentary system; appendicular skeleton; cranium; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in nonsyndromic congenital nail disorder 3. Orthologous to human PLCD1 (phospholipase C delta 1). PHENOTYPE: Mice homozygous for disruptions in this gene show reduced body size and various abnormalities of the skin and hair including alopecia, epidermal hyperplasia, enlarged sebaceous glands, various kinds of cysts, and skin tumors. [provided by MGI curators] |