This technology relates to novel animal models of several human bone diseases that have been linked to enhanced BMP signaling. More specifically, this mouse model expresses a mutant receptor for BMP, known as Alk2 that is always actively signaling. This receptor is under the control of the Cre-loxP system, which allows control of expression of the mutant Alk2 in both a developmental and tissue-specific manner. As a result, the enhanced signaling conditions exhibited in multiple human bone-related diseases can be studied with the same animals.
The mouse model can be applied to the study of BMP signaling-related human diseases such as fibrodysplasia ossificans progressiva, which involves the postnatal transformation of connective tissue into bone. Another example of BMP signaling-related disease is Craniosynostosis, which involves the premature closing of the sutures in childhood so that normal brain and skull growth are inhibited. This mouse model can potentially be used in other human diseases where BMP signaling might play a pivotal role, for example cleft lip and cleft palate, breast cancer, osteoarthritis, lung fibrosis, multiple myeloma, juvenile polyposis, cephalic neural tube closure detects, diabetes and other types of blood glucose control problems, and pulmonary hypertension.