Primary Identifier | MGI:2384878 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 214552 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be involved in cilium assembly. Located in several cellular components, including 9+2 motile cilium; centriole; and glial cell projection. Part of ciliary transition fiber. Is expressed in several structures, including brain; genitourinary system; gut; respiratory system; and retina. Human ortholog(s) of this gene implicated in hepatocellular carcinoma and nephronophthisis 15. Orthologous to human CEP164 (centrosomal protein 164). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality during organogenesis, holoprosencephaly, cardiac looping defects, pericardial edema, and a severe decrease of primary cilia in the neural tube. [provided by MGI curators] |