| Summary: | How can a single gene defect present with a varied phenotype- Cited2 gene deletion in the mouse results in pleiotropic, penetrant and variable cardiovascula malformations, laterality defects, adrenal agenesis, neural tube defects and fused cranial ganglia. CITED2 acts as a transcriptional co-activator, and as transcriptional repressor of PHFIA. Loss of Cited2 has been shown to be associated with increased levels of Vegf-a, a HIFIA target, and reduced levels of the key left-right patteming genes Nodal, Pitxlc, Leftyl in the left lateral piate mesoderm, and Pitx2c in the heart.
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