| Primary Identifier | MGI:2147298 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 225523 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in centrosome cycle; positive regulation of centrosome duplication; and positive regulation of cilium assembly. Acts upstream of or within several processes, including astral microtubule organization; nervous system development; and regulation of microtubule-based process. Located in centriole and centrosome. Is expressed in central nervous system; peripheral nervous system ganglion; and sensory organ. Human ortholog(s) of this gene implicated in Joubert syndrome 31 and short-rib thoracic dysplasia 13 with or without polydactyly. Orthologous to human CEP120 (centrosomal protein 120). PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth arrest at E8.5 and die during organogenesis exhibiting abnormal direction of heart looping. Primary mouse embryonic fibroblasts lack cilia and either one or both centrioles. [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
