CDH23

Cilia effects upon perturbation of CDH23

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.41) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

absent pinna reflex; decreased body length; increased circulating sodium level; decreased total body fat amount; decreased fasting circulating glucose level; impaired righting response; increased lean body mass; increased mean corpuscular hemoglobin; stereotypic behavior; decreased circulating glucose level; increased circulating chloride level; decreased leukocyte cell number; increased bone mineral content; trunk curl; abnormal gait; preweaning lethality; incomplete penetrance

Mouse ciliopathy phenotype:

decreased circulating calcium level

Human ciliopathy phenotype:

hearing loss, autosomal recessive; nonsyndromic genetic hearing loss; autosomal dominant nonsyndromic hearing loss; Joubert syndrome and related disorders

Subcellular localization

cilia associated gene

Function

The CDH23 (cadherin related 23) gene is localized on human chromosome 10, which has the function of maintaining intercellular connections and is involved in the formation of static cilia tissue and hair bundles(PMID: 37575969).

Model organism evidence