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. 1990 Sep;87(18):7145–7149. doi: 10.1073/pnas.87.18.7145

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta.

J Bonadio 1, T L Saunders 1, E Tsai 1, S A Goldstein 1, J Morris-Wiman 1, L Brinkley 1, D F Dolan 1, R A Altschuler 1, J E Hawkins Jr 1, J F Bateman 1, et al.
PMCID: PMC54700  PMID: 2402497

Abstract

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.

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