Primary Identifier | MGI:1921727 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 74477 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be involved in cytosolic ciliogenesis and protein localization to centrosome. Predicted to be located in centrosome and cytosol. Predicted to be active in centriolar satellite. Is expressed in several structures, including alimentary system; brain; egg cylinder; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in Joubert syndrome; asphyxiating thoracic dystrophy; and orofaciodigital syndrome. Orthologous to human KIAA0753 (KIAA0753). PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal embryo turning, embryonic growth retardation, pericardial edema, abnormal heart looping, absence of primary cilia in the neural tube, and complete embryonic lethality prior to organogenesis. [provided by MGI curators] |