TBX1

Cilia effects upon perturbation of TBX1

Ciliogenesis screen results (4 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.40) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=193, lfc=-2.16) PMID:30270045

Phenotypes

Mouse phenotype:

anophthalmia; abnormal blood vessel morphology; abnormal placenta morphology; embryonic growth retardation; edema; abnormal skin morphology; abnormal eye morphology; preweaning lethality; complete penetrance

Mouse ciliopathy phenotype:

microphthalmia; persistence of hyaloid vascular system; abnormal pancreas morphology

Subcellular localization

cytoplasmic bodies, nuclear bodies

Functional category

• Motile cilium & axoneme

Function

Mutations in TBX1 cause Simpson-Golabi-Behmel Syndrome (PMID: 36936145).