Primary Identifier | MGI:2159344 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 229658 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Acts upstream of or within pigmentation. Located in lateral plasma membrane. Is expressed in several structures, including central nervous system; future brain; notochord; sensory organ; and skin. Human ortholog(s) of this gene implicated in caudal regression syndrome and neural tube defect. Orthologous to human VANGL1 (VANGL planar cell polarity protein 1). PHENOTYPE: Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities. [provided by MGI curators] |