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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 1 Mar 1993

Chipman S D, Sweet H O, McBride D J, Davisson M T, Marks S C, Shuldiner A R, Wenstrup R J, Rowe D W, Shapiro J R

Abstract excerpt

Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue associated with fractures, osteopenia, and short stature. OI results from mutations affecting the pro alpha 1 or pro alpha 2 gene of type I collagen. We describe a strain of mice with a nonlethal recessively inherited mutation (oim) that results in phenotypic and biochemical features that simulate moderate to severe human OI. The phenotype...

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Identifiers

PMID: 8446583
DOI: 10.1073/pnas.90.5.1701
PMCID: PMC45947

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