| Primary Identifier | MGI:1915228 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 67978 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cilium assembly; protein localization to ciliary transition zone; and smoothened signaling pathway. Located in ciliary transition zone. Part of MKS complex. Is expressed in several structures, including central nervous system; retina; and turbinate bone primordium. Human ortholog(s) of this gene implicated in Joubert syndrome 24 and Meckel syndrome 8. Orthologous to human TCTN2 (tectonic family member 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit open neural tubes, exencephaly, micropthalmia, cleft palate, preaxial polydactyly, ventricular septal defect, sight-sided stomach, absent floor plate, and cilia defects. [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
