Bone Morphogenetic Proteins pp 247-255 | Cite as
Heterotopic Ossification in Mouse Models of Fibrodysplasia Ossificans Progressiva
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Abstract
Fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of progressive extra-skeletal ossification, is the most disabling form of heterotopic ossification (HO) in humans. Most people with FOP carry an activating mutation in a BMP type I receptor gene, ACVR1R206H, that promotes ectopic chondrogenesis and osteogenesis and in turn HO. Advances in elucidating the cellular and molecular events and mechanisms that lead to the ectopic bone formation are being made through the use of genetically engineered mouse models that recapitulate the human disease. We describe methods for inducing heterotopic ossification in a mouse model that conditionally expresses the Acvr1R206H allele.
Key words
Fibrodysplasia ossificans progressiva FOP Heterotopic ossification HO ACVR1 ALK2 Mouse modelNotes
Acknowledgments
We thank the International Fibrodysplasia Ossificans Progressiva Association (IFOPA), the Center for Research in FOP and Related Disorders, the Ian Cali Endowment for FOP Research, the Whitney Weldon Endowment for FOP Research, the Ashley Martucci FOP Research Fund, the Penn Center of Musculoskeletal Disorders (NIH P30-AR06919), the Cali-Weldon Professorship of FOP Research (EMS), and the National Institutes of Health (NIH R01-AR41916) for supporting our work. We also thank Regeneron Pharmaceuticals for developing the conditional Acvr1 R206H mouse model.
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