Primary Identifier | MGI:1194909 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 22092 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within spermatid development. Located in condensed nuclear chromosome and cytoskeleton. Part of radial spoke head 1 and radial spoke head 3. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma and primary ciliary dyskinesia 24. Orthologous to human RSPH1 (radial spoke head component 1). PHENOTYPE: Mice homozygous for a targeted null mutation exhibit male infertility and azoospermia due to impaired spermatid formation, including deformation of the nucleus/head, acrosome, and flagellar mitochondrial sheath. Homozygous null females are fertile. [provided by MGI curators] |