Primary Identifier | MGI:1917550 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 70300 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol binding activity. Involved in several processes, including embryonic morphogenesis; non-motile cilium assembly; and regulation of signal transduction. Acts upstream of or within several processes, including circulatory system development; embryonic morphogenesis; and regionalization. Predicted to be located in cilium. Is expressed in several structures, including central nervous system; neural ectoderm; and notochord. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human FUZ (fuzzy planar cell polarity protein). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit neural tube closure defects, abnormal craniofacial morphology, abnormal skeletal morphology, polydactyly, anopthalmia, pulmonary hopyplasia, and cardiac outflow tract defects. [provided by MGI curators] |