| Primary Identifier | MGI:2135272 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 93840 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including Wnt signaling pathway, planar cell polarity pathway; axon guidance; and morphogenesis of an epithelium. Acts upstream of or within several processes, including inner ear development; morphogenesis of an epithelium; and ventricular septum morphogenesis. Located in several cellular components, including basolateral plasma membrane; lateral plasma membrane; and stress fiber. Is active in glutamatergic synapse and postsynaptic density membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system epithelium; and sensory organ. Used to study neural tube defect. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human VANGL2 (VANGL planar cell polarity protein 2). PHENOTYPE: Homozygous animals do not survive past birth. Developmental defects are seen in the nervous, cardiovascular, skeletal, vestibular, and respiratory systems. Kinked or looped tails are noted in heterozygotes with partial penetrance, along with a head wobble and some nervous system deficits. [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
