| Primary Identifier | MGI:2685906 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 381738 |
| 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 cilium assembly; determination of left/right symmetry; and single fertilization. Is active in cytosol and sperm flagellum. Is expressed in several structures, including brain; nasal cavity respiratory epithelium; and respiratory system epithelium. Used to study Kartagener syndrome; primary ciliary dyskinesia 21; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 21 and spermatogenic failure 80. Orthologous to human DRC1 (dynein regulatory complex subunit 1). PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and vein abnormalities; immotile/dyskinetic airway cilia are 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
