CDHR1

Cilia effects upon perturbation of CDHR1

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.65) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:

retinitis pigmentosa; cone-rod dystrophy

Ciliopathy associations

• Cone-Rod Dystrophy
• Retinal Dystrophy/Degeneration

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane

Function

siah1 and cdhr1a co-expression as well as protein localization in the reti l outer nuclear layer (ONL), and more precisely in the connecting cilium of rods and cones between 3–5 days post fertilization (dpf)(33330480).