Primary Identifier | MGI:1915520 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 68270 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cilium assembly; determination of left/right symmetry; and regulation of cilium beat frequency. Predicted to be located in cytosol; nuclear speck; and plasma membrane. Predicted to be active in axoneme. Is expressed in several structures, including genitourinary system; liver; node; nose; and spleen. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 13. Orthologous to human DNAAF1 (dynein axonemal assembly factor 1). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit partial postnatal lethality, domed cranium, enlarged lateral ventricles, abnormal hippocampus morphology, and thin cerebral cortex. [provided by MGI curators] |