METHOD OF DETECTING BONE PAGET'S DISEASE

摘要

A method for detecting Paget disease of bone and an animal showing the pathology of Paget disease of bone are provided. In particular, there are provided associating Paget disease of bone with the mutation a chondroitin/chondroitin synthase gene comprising the amino acid sequence depicted in any one of SEQ ID NO: 2, SEQ ID NO: 4, SEQ ID NO: 6, SEQ ID NO: 66, SEQ ID NO: 68 or SEQ ID NO: 70 or the amount of expression of said gene, detection of Paget disease of bone, and a knockout animal prepared by knocking out the chondroitin/chondroitin synthase gene.