| Primary Identifier | MGI:3603820 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 654470 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cilium assembly and protein localization to ciliary transition zone. Acts upstream of or within in utero embryonic development; nervous system development; and regulation of smoothened signaling pathway. Located in ciliary transition zone; extracellular space; and membrane. Part of MKS complex. Is expressed in several structures, including gut epithelium; neural tube; node; notochord; and somite. Human ortholog(s) of this gene implicated in Joubert syndrome 13. Orthologous to human TCTN1 (tectonic family member 1). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality, holoprosencephaly and lack a neural floor plate. [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
