ANKRD11

Cilia effects upon perturbation of ANKRD11

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.95) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased bone mineral density, abnormal head morphology, abnormal response to new environment, decreased startle reflex, abnormal startle reflex, increased circulating cholesterol level, decreased prepulse inhibition, decreased body length, abnormal embryo development, increased bone mineral content, increased circulating hdl cholesterol level, preweaning lethality, complete penetrance

Mouse ciliopathy phenotype:

abnormal auditory brainstem response, abnormal reti vasculature morphology, abnormal vitreous body morphology

Human ciliopathy phenotype:

Global developmental delay; Intellectual disability

Ciliopathy associations

• Cornelia de Lange Syndrome

Subcellular localization

cilia associated gene, nucleus

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the ANKRD11 gene cause Cornelia de Lange Syndrome (PMID: 25652421).