Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects.

Abstract excerpt

Neural tube defects are common and serious human congenital anomalies. These malformations have a multifactorial etiology and can be reproduced in mouse models by mutations of numerous individual genes and by perturbation of multiple environmental factors. The identification of specific genetic interactions affecting neural tube closure will facilitate our understanding of molecular pathways regulating normal...

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