Primary Identifier | MGI:1919120 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 71870 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable AMP binding activity. Acts upstream of or within epithelial cilium movement involved in extracellular fluid movement; flagellated sperm motility; and regulation of cilium beat frequency involved in ciliary motility. Located in 9+0 motile cilium. Is active in axonemal B tubule inner sheath. Is expressed in lateral ventricle choroid plexus; lung; metencephalon part of 4th ventricle choroid plexus; and olfactory epithelium. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP45 (cilia and flagella associated protein 45). PHENOTYPE: Mice homozygous for a knock-out allele exhibit left-right asymmetry abnormalities including situs inversus totalis and asthenospermia, due to dyskinetic beating of embryonic nodal cilia and sperm flagella, respectively. [provided by MGI curators] |