| Primary Identifier | MGI:1289258 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 100048534 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in regulation of cilium beat frequency and sperm axoneme assembly. Acts upstream of or within several processes, including epithelial cilium movement involved in extracellular fluid movement; motile cilium assembly; and spermatogenesis. Located in 9+2 motile cilium and axoneme. Is expressed in lateral ventricle choroid plexus and metencephalon part of 4th ventricle choroid plexus. Used to study normal pressure hydrocephalus and spermatogenic failure 19. Human ortholog(s) of this gene implicated in normal pressure hydrocephalus and spermatogenic failure 19. Orthologous to human CFAP43 (cilia and flagella associated protein 43). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. [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
