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Abstract #2047

MRI Characterization of Cleft Lip and Palate Resulting from Hedgehog Signaling Antagonism in Mice

Rob Lipinski1, Chihwa Song2, Jerry Gipp3, Wade Bushman3, Ian Rowland4

1Bowles Center for Alcohol Research, University of North Carolina, Chapel Hill, NC, United States; 2Medical Physics, University of Wisconsin, Madison, WI, United States; 3Urology Department, University of Wisconsin, Madison, WI, United States; 4Department of Radiology, University of Wisconsin, Madison, WI, United States

In utero Hedgehog (Hh) signaling antagonist exposure causes a spectrum of birth defects including holoprosencephaly (HPE) and cleft lip and palate (CLP). High resolution MRI and standard histological methodologies were used to characterize the CNS phenotype of GD16.5 mouse fetuses exposed to Hh antagonists. HPE fetuses exhibited incompletely separated cerebral hemispheres and complete pituitary and olfactory bulb agenesis. Those with CLP exhibited olfactory bulb hypoplasia and anterior pituitary aplasia. These results demonstrate phenotypic fidelity of the mouse model to known clinical phenotypes and highlight subtle CNS abnormalities as are expected to occur in a subset of clinical CLP populations.