| First Author | Bonadio J | Year | 1990 |
| Journal | Proc Natl Acad Sci U S A | Volume | 87 |
| Issue | 18 | Pages | 7145-9 |
| PubMed ID | 2402497 | Mgi Jnum | J:107045 |
| Mgi Id | MGI:3620082 | Doi | 10.1073/pnas.87.18.7145 |
| Citation | Bonadio J, et al. (1990) Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Proc Natl Acad Sci U S A 87(18):7145-9 |
| abstractText | Osteogenesis imperfecta type I is a mild, dominantly inherited, connective tissue disorder characterized by bone fragility. Mutations in type I collagen account for all known cases. In Mov-13 mice, integration of a murine retrovirus within the first intron of the alpha 1(I) collagen gene results in a null allele blocked at the level of transcription. This study demonstrates that mutant mice heterozygous for the null allele are a model of osteogenesis imperfecta type I. A defect in type I collagen production is associated with dominant-acting morphological and functional defects in mineralized and nonmineralized connective tissue and with progressive hearing loss. The model provides an opportunity to investigate the effect of a reduced amount of type I collagen on the structure and integrity of extracellular matrix. It also may represent a system in which therapeutic strategies to strengthen connective tissue can be developed. |
