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4. Defective pro-alpha-2(I) collagen synthesis in a recessive mutation in mice:a model of human osteogenesis imperfecta

Author

Chipman, Stewart D., Sweet, Hope O., McBride, Daniel J., Jr., Davisson, Muriel T., Marks, Sandy C., Jr., Shuldiner, Alan R., Wenstrup, Richard J., Rowe, David W., and Shapiro, Jay R.

Subjects
Osteogenesis imperfecta -- Genetic aspects, Animal models in research -- Research, Collagen -- Genetic aspects, Science and technology
Abstract

Osteogenesis imperfecta (OI) is a genetic disorder which results in various bone abnormalities in humans. A strain of mice harboring a natural mutation which reproduced the phenotypic andbiochemical features of human OI was discovered. The mutation was termed oim, for osteogenesis imperfecta murine. Collagen/procollagen and DNA sequence analyses showed that the mutation involves a G deletion at nucleotide 3983 of the Cola-2 gene, resulting in abnormal pro-alpha-2(I) collagen.

Published
1993

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