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Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen gene

Nature volume 332, pages 131–136 (1988)Cite this article

Abstract

Substitutions of single glycine residues of α1(I) collagen have previously been associated with the inherited disease osteogenesis imperfecta type II. Transgenic mice bearing a mutant α1(I) collagen gene into which specific glycine substitutions have been engineered show a dominant lethal phenotype characteristic of the human disease, and demonstrate that as little as 10% mutant gene expression can disrupt normal collagen function.

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Authors and Affiliations

  1. Whitehead Institute for Biomedical Research, Department of Biology, Massachusetts Institute of Technology, Nine Cambridge Center, Massachusetts, 02142, USA

    Alex Stacey, Ted Choi & Rudolf Jaenisch

  2. Department of Paediatrics, University of Melbourne, Parkville, Victoria, 3052, Australia

    John Bateman, Tom Mascara & William Cole

Authors
  1. Alex Stacey
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  2. John Bateman
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  3. Ted Choi
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  4. Tom Mascara
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  5. William Cole
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  6. Rudolf Jaenisch
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Stacey, A., Bateman, J., Choi, T. et al. Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen gene. Nature 332, 131–136 (1988). https://doi.org/10.1038/332131a0

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