RD3

Cilia effects upon perturbation of RD3

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.11) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

abnormal reti outer nuclear layer morphology, abnormal eye posterior chamber depth, abnormal eye anterior chamber depth, decreased total reti thickness, abnormal reti inner nuclear layer morphology, decreased mean corpuscular hemoglobin concentration, increased hematocrit

Mouse ciliopathy phenotype:

abnormal reti morphology

Human ciliopathy phenotype:

Leber congenital amaurosis

Ciliopathy associations

• Leber Congenital Amaurosis

Subcellular localization

cilia associated gene

Functional category

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

Function

Mutations in the RD3 gene cause Leber Congenital Amaurosis (PMID: 17186464).