| Primary Identifier | MGI:1921703 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 74453 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in manchette assembly and sperm flagellum assembly. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and protein localization to motile cilium. Located in cytoskeleton; glial cell projection; and motile cilium. Is active in axonemal A tubule inner sheath and sperm flagellum. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP53 (cilia and flagella associated protein 53). PHENOTYPE: Homozygous knock-out affects node cilia and results in abnormal placental labyrinth vasculature morphology, placental hemorrhage and necrosis, and partial preweaning lethality. Mice homozygous for a different null allele exhibit impaired survival, situs inversus, hydrocephaly, and male infertility with oligozoospermia and abnormal head and flagellum morphology. [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
