NU 2007-076

Inventor

John A. Kessler

Short Description

New mouse model of FOP, a rare genetic disease characterized by abnormal growth of bone which replaces soft tissues

Abstract

Northwestern University scientists developed a mouse model of fibrodisplasia ossificans progressiva (FOP), a rare genetic disease that causes soft tissues to be replaced with bone over time. While it was understood that bone morphogenetic protein-4 (BMP-4) was involved in the pathophysiology of this disease, this knowledge did not facilitate the generation of a good mouse model of FOP for many years. Northwestern researchers were able to generate a transgenic mouse model that most closely mimics human disease by overexpressing BMP-4 under the control of the neuron specific enolase (NSE) promoter. This model was used to confirm the role of BMP-4 in FOP and is expected to enable further research that may lead to the development of a treatment for this disabling disease.

Applications

• Study of FOP
• Research of BMP signaling pathway

Advantages

• Closely approximates human FOP disease

Publications

Kan L, Hu M, Gomes WA, Kessler JA (2004) Transgenic Mice Overexpressing BMP4 Develop a Fibrodisplasia Ossificans Progressiva (FOP)-Like Phenotype . American Journal of Pathology. 165(4): 1107-1115.