Primary Identifier | MGI:1922184 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 74934 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including determination of left/right symmetry; outer dynein arm assembly; and ventricular system development. Predicted to be located in axoneme and ciliary base. Is expressed in node. Used to study Kartagener syndrome; primary ciliary dyskinesia 23; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 23. Orthologous to human ODAD2 (outer dynein arm docking complex subunit 2). PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit situs inversus totalis or heterotaxia with congenital heart disease including double outlet right ventricle and ventricular septal defects. Dyskinetic, slow, or immotile airway cilia are also observed. [provided by MGI curators] |