| Primary Identifier | MGI:1289263 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 51938 |
| 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 cerebrospinal fluid circulation; inner dynein arm assembly; and nervous system development. Located in 9+2 motile cilium; cytosol; and glial cell projection. Is expressed in several structures, including central nervous system; ileum; male reproductive gland or organ; respiratory system; and secondary heart field. Used to study Kartagener syndrome; hydrocephalus; primary ciliary dyskinesia 14; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 14. Orthologous to human CCDC39 (coiled-coil domain 39 molecular ruler complex subunit). PHENOTYPE: ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus. [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
