| Primary Identifier | MGI:1100883 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 12614 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable calcium ion binding activity. Involved in establishment of planar polarity and neural tube closure. Acts upstream of or within several processes, including apical protein localization; morphogenesis of an epithelium; and motor neuron migration. Located in membrane. Is expressed in several structures, including central nervous system; epithelium; primitive streak; renal cortex; and skin. Human ortholog(s) of this gene implicated in hereditary lymphedema. Orthologous to human CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1). PHENOTYPE: Nullizygous mice exhibit kinky tails, variable neural tube defects, abnormal hair follicle orientation, whorl-like hair patterns, and partial prenatal lethality. ENU-induced mutants show defects in planar polarity of inner ear hair cells and complete perinatal lethality due to craniorachischisis. [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
