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PMID: 2450280 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Nature ·Vol. 332 ·No. 6160 ·1988-03-10 ·Pages 131-6

Stacey A, Bateman J, Choi T, Mascara T, Cole W, Jaenisch R

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

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

Chemicals

Procollagen RNA

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Stacey A

Whitehead Institute for Biomedical Research, Department of Biology, Massachusetts Institute of Technology, Cambridge 02142.

Bateman J

Choi T

Mascara T

Cole W

Jaenisch R

Article Info

Journal

Nature

Abbr.

Nature

ISSN

0028-0836

DOI

10.1038/332131a0

Published

1988-03-10

Pages

131-6

Language

English

Region

England

NLM ID

0410462

Subset

External Links

PubMed source DOI: 10.1038/332131a0 View journal details

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

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