Primary Identifier | MGI:1923920 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 76670 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Involved in cilium assembly and cilium movement. Located in axoneme and sperm flagellum. Is expressed in lateral ventricle choroid plexus; metencephalon part of 4th ventricle choroid plexus; and olfactory epithelium. Human ortholog(s) of this gene implicated in spermatogenic failure 41. Orthologous to human CFAP70 (cilia and flagella associated protein 70). PHENOTYPE: Mice homozygous for a null allele exhibit male infertility, with males producing very few spermatozoa in the cauda epididymis and immotile spermatozoa showing short and coiled flagella with defective axoneme structures. Some pups die before 4 weeks due to hydrocephalus. [provided by MGI curators] |