| 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 9.1.0) Acts upstream of or within mucociliary clearance and pigmentation. Located in lateral plasma membrane. Is expressed in several structures, including central nervous system; future brain; naso-lacrimal groove; 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. Homozygosity for a congenital scoliosis (CS) mutation in conjunction with Vangl2 KO heterozygosity affects somite development, leading to vertebrae and rib malformations and curly tail. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
