CAMSAP3

Cilia effects upon perturbation of CAMSAP3

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.59) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

decreased bone mineral content, increased total body fat amount, decreased lean body mass, absent pin reflex, increased circulating alkaline phosphatase level, decreased circulating glucose level, increased neutrophil cell number, decreased circulating cholesterol level, decreased circulating hdl cholesterol level, increased circulating chloride level, preweaning lethality, incomplete penetrance, decreased blood urea nitrogen level, increased circulating glycerol level, trunk curl, decreased bone mineral density, decreased hemoglobin content, abnormal cornea morphology, cornea opacity, fused cornea and lens, increased leukocyte cell number, decreased body length, increased circulating thyroxine level, increased gamma-delta t cell number, increased circulating sodium level, abnormal bone structure

Mouse ciliopathy phenotype:

female infertility, abnormal auditory brainstem response, male infertility, abnormal lens morphology, cataract

Subcellular localization

cilia, microtubules

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Neurogenesis & migration

Function

Wdr47 facilitates proper neurite remodeling through Camsaps to fine-tune regional microtubule dynamics and organization during early stages of neuronal polarization(32320668). Camsap1, Camsap2, and Camsap3 colocalize with Wdr47 in multicilia (34608154).

Model organism evidence