Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene

Nature. 1988 Mar 10;332(6160):131-6. doi: 10.1038/332131a0.

Abstract

Substitutions of single glycine residues of alpha 1(I) collagen have previously been associated with the inherited disease osteogenesis imperfecta type II. Transgenic mice bearing a mutant alpha 1(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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • Cloning, Molecular
  • Disease Models, Animal
  • Genes*
  • Mice
  • Mice, Transgenic
  • Mutation*
  • Nucleic Acid Hybridization
  • Osteogenesis Imperfecta / genetics*
  • Phenotype
  • Procollagen / genetics*
  • RNA / genetics
  • Transcription, Genetic
  • Transfection*

Substances

  • Procollagen
  • RNA