ADSL

Cilia effects upon perturbation of ADSL

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.90) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.66) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, embryonic lethality prior to organogenesis

Mouse ciliopathy phenotype:

abnormal reti blood vessel morphology, abnormal reti morphology, abnormal reti vasculature morphology, microphthalmia

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly
• Cilia length regulation

Function

While KV area and cilia number were not significantly affected by Adsl depletion, cilia length was reduced in Adsl ATG MO-treated embryos(35133277).