AFF4

Cilia effects upon perturbation of AFF4

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.98) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

edema; abnormal blood vessel morphology; abnormal craniofacial morphology; embryonic growth retardation; abnormal placenta morphology; preweaning lethality; complete penetrance; increased freezing behavior; increased grip strength; abnormal placenta vasculature; abnormal skin morphology; abnormal caudal vertebrae morphology; anophthalmia

Mouse ciliopathy phenotype:

microphthalmia; abnormal kidney morphology; small kidney

Human ciliopathy phenotype:

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

Subcellular localization

nuclear bodies, nucleoli fibrillar center, nucleoplasm

Function

Mutations in AFF4 cause Cornelia de Lange Syndrome (PMID: 37377026).