| Primary Identifier | MGI:1922814 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 75564 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in axonemal central apparatus assembly; cilium movement; and radial spoke assembly. Located in axoneme and sperm flagellum. Part of radial spoke head 1 and radial spoke head 3. Is expressed in several structures, including adrenal gland; brain ventricle; gut gland; ovary; and retina. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 12. Orthologous to human RSPH9 (radial spoke head component 9). PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, hydrocephaly, ventriculomegaly, abnormal brain ependyma motile cilium morphology and physiology, reduced cerebrospinal fluid flow, astrogliosis, microgliosis, cerebrovascular and myelination abnormalities, and severe sinusitis. [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
