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Shroom3 Deficient Mice Show Congenital Heart Defects, Rami R. Halabi

Electronic Thesis and Dissertation Repository

Congenital heart defects (CHDs) are associated with a number of genetic and environmental risk factors affecting approximately 1% of newborns. Shroom3 is an actin binding and microtubule organizing protein essential for neural tube closure in mouse, Xenopus and chick. In Xenopus shroom3 expression is found within the forming heart and loss of activity results in malformed hearts. In addition, SHROOM3 has recently been associated with heterotaxy in a human patient. Mice homozygous for the Shroom3 gene trap die at birth due to exencephaly and here, I provide evidence that the majority of these mice have CHDs, including septal defects, semilunar …