Mowat-Wilson syndrome is a recently delineated autosomal dominant developmental 
anomaly, whereby heterozygous mutations in the ZFHX1B gene cause mental 
retardation, delayed motor development, epilepsy and a wide spectrum of 
clinically heterogeneous features, suggestive of neurocristopathies at the 
cephalic, cardiac and vagal levels. However, our understanding of the etiology 
of this condition at the cellular level remains vague. This study presents the 
Zfhx1b protein expression domain in mouse embryos and correlates this with a 
novel mouse model involving a conditional mutation in the Zfhx1b gene in neural 
crest precursor cells. These mutant mice display craniofacial and 
gastrointestinal malformations that show resemblance to those found in human 
patients with Mowat-Wilson syndrome. In addition to these clinically recognized 
alterations, we document developmental defects in the heart, melanoblasts and 
sympathetic and parasympathetic anlagen. The latter observations in our mouse 
model for Mowat-Wilson suggest a hitherto unknown role for Zfhx1b in the 
development of these particular neural crest derivatives, which is a set of 
observations that should be acknowledged in the clinical management of this 
genetic disorder.