Primary Identifier | MGI:2144467 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 216560 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol binding activity. Acts upstream of or within several processes, including embryonic digit morphogenesis; podocyte cell migration; and sensory organ morphogenesis. Located in axonemal basal plate. Is expressed in several structures, including alimentary system epithelium; brain; musculoskeletal system; nose; and respiratory system. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 15 and congenital heart defects, hamartomas of tongue, and polysyndactyly. Orthologous to human WDPCP (WD repeat containing planar cell polarity effector). PHENOTYPE: Mice homozygous for a null mutation display ciliogenesis defects, anophthalmia, cysts in multiple tissues, central polydactyly, duplex kidney, and septation defects in the outflow tract and cloaca. [provided by MGI curators] |