Primary Identifier | MGI:1922208 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 380654 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme. Orthologous to human CFAP54 (cilia and flagella associated protein 54). PHENOTYPE: Homozygous inactivation of this gene causes background-dependent lethality and hydroencephaly, male sterility associated with defects in spermiogenesis, and impaired mucociliary clearance. Airway epithelial cilia show structural defects and a decrease in ciliary beat frequency and cilia-driven flow. [provided by MGI curators] |