AXIN2

Cilia effects upon perturbation of AXIN2

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.34) 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:

abnormal embryo size, decreased body length, abnormal limb morphology, unresponsive to tactile stimuli, abnormal body wall morphology, increased blood urea nitrogen level, preweaning lethality, complete penetrance, anophthalmia, abnormal eyelid fusion, protruding tongue, abnormal skin coloration, abnormal embryo development

Mouse ciliopathy phenotype:

abnormal head shape, microphthalmia, abnormal reti blood vessel morphology, persistence of hyaloid vascular system, abnormal facial morphology, polydactyly

Subcellular localization

centrosome, cilia associated gene, lysosomes, nucleus

Functional category

• Ciliary assembly/disassembly
• T cell biology
• ECM & connective tissue

Function

Loss of AXIN1/2 function leads to excessive ABC accumulation and in turn to overactivation of WNT/β-catenin sig ling in AXIN1/2dKO cells ( 33718363).

Model organism evidence