Primary Identifier | MGI:1923089 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 71227 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Acts upstream of or within several processes, including cerebrospinal fluid circulation; determination of left/right symmetry; and outer dynein arm assembly. Predicted to be located in ciliary basal body. Predicted to be part of SCF ubiquitin ligase complex. Is expressed in node. Used to study Kartagener syndrome; primary ciliary dyskinesia; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia. Orthologous to human DAW1 (dynein assembly factor with WD repeats 1). PHENOTYPE: Mice homozygous for an induced mutation exhibit dextrocardia associated with situs inversus totalis, overriding aorta, ventricular septal defects, and dual inferior vena cava as well as dextrogastria, hypoplastic spleen, inverted liver, lung lobation/isomerism and dyskinetic/immotile airway cilia [provided by MGI curators] |