| Primary Identifier | MGI:1915775 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 68525 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in smoothened signaling pathway. Located in ciliary membrane and nucleus. Part of plasma membrane protein complex. Is expressed in several structures, including heart; limb bud; oral region epithelium; skeleton; and tooth. Used to study Ellis-Van Creveld syndrome. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis. Orthologous to human EVC2 (EvC ciliary complex subunit 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. [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
