DNAI4

Cilia effects upon perturbation of DNAI4

Phenotypes

Mouse phenotype:

increased mean corpuscular volume

Mouse ciliopathy phenotype:

male infertility

Subcellular localization

basal body

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane

Function

Identified as a putative cilia gene by proteomics and comparative genomics (15937072), characterised as a cilia protein via siR knockdown of Wdr78 in 3 different mouse cell lines and high content imaging which showed perturbed receptor transport to the ciliary membrane and HH sig lling (21289087). Vertebrate orthologue of Chlamydomo s inner dynein arm protein IC138. Associates with inner dynein arm subunits such as D h2 (a heavy chain) and Wdr63 (Chlamydomo s IC140 orthologue) in mice. Localises specifically to motile cilia in mice and knockdown leads to immotility of ependymal cilia with failure of heavy chains and intermediate chains of inner dynein arms to localise to motile cilia 30060180 . Zebrafish Wdr78 morphants have ciliopathy- type phenotypes (30060180).