| Primary Identifier | MGI:1351471 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 27078 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables hedgehog receptor activity. Involved in cilium assembly and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic digit morphogenesis; in utero embryonic development; and neuroepithelial cell differentiation. Located in ciliary transition zone and membrane. Part of MKS complex. Is expressed in embryo and secondary heart field. Used to study Meckel syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 27 and Meckel syndrome. Orthologous to human B9D1 (B9 domain containing 1). PHENOTYPE: Mice homozygous for a gene trap or knock-out allele exhibit ciliary defects including kidney cysts, cleft palate, dextrocardia, holoprosencephaly, polydactyly, micropthalmia, ventricular septal defects, and thin myocardium. [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
