| Primary Identifier | MGI:3616079 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 433956 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in cilium movement; inner dynein arm assembly; and outer dynein arm assembly. Located in cytoplasm. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Used to study male infertility and primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 18. Orthologous to human DNAAF5 (dynein axonemal assembly factor 5). PHENOTYPE: Homozygous KO is embryonic lethal. Homozygosity for the p.C498F mutation affects cilia motility and leads to male infertility, hydrocephaly and heterotaxia. [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
