Primary Identifier | MGI:1100864 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 13411 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within several processes, including cardiac septum morphogenesis; determination of left/right symmetry; and flagellated sperm motility. Located in 9+0 motile cilium; 9+2 motile cilium; and proximal portion of axoneme. Is expressed in several structures, including future brain; node; oviduct; respiratory system; and secondary heart field. Used to study Kartagener syndrome; atrioventricular septal defect; primary ciliary dyskinesia 7; and visceral heterotaxy. Human ortholog(s) of this gene implicated in Kartagener syndrome and primary ciliary dyskinesia 7. Orthologous to human DNAH11 (dynein axonemal heavy chain 11). PHENOTYPE: Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry. [provided by MGI curators] |