| Primary Identifier | MGI:1916172 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 68922 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable dynein heavy chain binding activity and dynein light chain binding activity. Involved in insulin receptor signaling pathway. Acts upstream of or within determination of left/right symmetry; epithelial cilium movement involved in extracellular fluid movement; and heart development. Located in 9+2 motile cilium; centrosome; and cytoplasm. Is expressed in embryo; spermatozoon; and testis. Used to study Kartagener syndrome; primary ciliary dyskinesia 1; and visceral heterotaxy. Human ortholog(s) of this gene implicated in Kartagener syndrome and primary ciliary dyskinesia 1. Orthologous to human DNAI1 (dynein axonemal intermediate chain 1). PHENOTYPE: Mutant mice exhibit situs inversus, heterotaxia and ciliary dyskinesia including cardiovascular defects and decreased ciliary activity in the trachea, reduced to absent mucociliary clearance, and chronic rhinosinusitis. Hydrocephaly is also seen. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
