title: Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene.
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.
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D003001:Cloning, Molecular; D004195:Disease Models, Animal; D005796:Genes; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010641:Phenotype; D011347:Procollagen / Q000235:genetics*; D012313:RNA / Q000235:genetics; D014158:Transcription, Genetic; D014162:Transfection
chemical_list: D011347:Procollagen; D012313:RNA