Primary Identifier | MGI:1919110 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 71860 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in flagellated sperm motility. Acts upstream of or within several processes, including microtubule sliding; single fertilization; and spermatid development. Is active in axonemal B tubule inner sheath and sperm midpiece. Is expressed in several structures, including brain ventricle and choroid plexus and epithelium. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP52 (cilia and flagella associated protein 52). PHENOTYPE: Mice homozygous for a null allele exhibit 52% penetrance of hydrocephalus which leads to death within 2 months. Males are infertile, exhibiting asthenozoospermia with disconnected midpiece and principal piece without defects in the axoneme. [provided by MGI curators] |