| Primary Identifier | MGI:2443752 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 380614 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Involved in several processes, including cilium assembly; limb development; and regulation of smoothened signaling pathway. Acts upstream of or within several processes, including cilium assembly; hair follicle morphogenesis; and nervous system development. Located in centriole; ciliary transition zone; and cytoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. Orthologous to human INTU (inturned planar cell polarity protein). PHENOTYPE: Homozygous null mice show defective ciliogenesis and neural tube closure, abnormal patterning of the CNS and limbs, polydactyly, edema and death by E16.5. Homozygotes for a hypomorphic allele show defective ciliation and endochondral ossification, stunted growth, polydactyly and postnatal lethality. [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
