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PFTT - Cranial and Vertebral Defects in Nell1 Mouse Mutants

The subject invention disclosed herein comprises the generation and characterization of four mouse mutations in the Nell1 gene. It has been determined that these mutations result in the loss of function of the gene and give rise to both cranial and vertebral defects in mouse fetuses. The known Nell1 gene encodes a protein kinase C ß1 binding protein whose over expression in the developing cranial sutures in both man and mouse induces premature fusion of the growing cranial bone fronts, resulting in craniosynostosis. The transgenic mouse model of the present invention, along with in vitro transfection experiments, demonstrated that the Nell1 protein induces intramembranous bone differentiation in the growing skull. The mouse model of the present invention is important in understanding the pathways that are perturbed in craniofacial development giving rise to the common human birth defect, craniosynostosis.

Life Sciences Division
Oak Ridge National Laboratory
Oak Ridge National Laboratory
Phone: (865) 576-4680
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