Ciliary ARL13B Is Essential for Vision and Morphogenesis of Cone Outer Segments.

Abstract excerpt

Mutations in ARL13B lead to Joubert syndrome, a ciliopathy with neurological and retinal abnormalities. In photoreceptors, ARL13B localizes to the connecting cilia and outer segments. However, the specific function and the need for ARL13B in photoreceptor cilia remain unclear. We used a knock-in mouse model with the Arl13b V358A mutation, which disrupts ciliary localization while preserving guanine exchange...

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