Primary Identifier | MGI:1891414 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 83922 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cilium assembly. Located in centriole and ciliary basal body. Is expressed in integumental system muscle. Human ortholog(s) of this gene implicated in Joubert syndrome 15. Orthologous to human CEP41 (centrosomal protein 41). PHENOTYPE: Homozygous disruption of this gene causes an abnormal gait, increased thermal nociceptive threshold, and alterations in fertility/fecundity and eye morphology. Some embryos homozygous for a gene trapped allele die at E10-E12 exhibiting turning failure, dilated pericardial sacs, and brain anomalies. [provided by MGI curators] |