Primary Identifier | MGI:2443893 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 207607 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in epithelial cilium movement involved in determination of left/right asymmetry; lung development; and protein localization to cilium. Acts upstream of or within axoneme assembly and determination of left/right symmetry. Located in cilium and cytoplasm. Is active in motile cilium. Is expressed in several structures, including central nervous system; node; olfactory epithelium; and respiratory system. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 15. Orthologous to human CCDC40 (coiled-coil domain 40 molecular ruler complex subunit). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit heterotaxia, hydrocephalus, short embryonic cilia, and postnatal lethality. [provided by MGI curators] |