| First Author | Stacey A | Year | 1988 |
| Journal | Nature | Volume | 332 |
| Issue | 6160 | Pages | 131-6 |
| PubMed ID | 2450280 | Mgi Jnum | J:29562 |
| Mgi Id | MGI:77093 | Doi | 10.1038/332131a0 |
| Citation | Stacey A, et al. (1988) Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene. Nature 332(6160):131-6 |
| abstractText | 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. |
