References
Query Results -- Details
MGI Accession ID: MGI:3620082
J Number: J:107045
Other Accession IDs:
Title: Transgenic mouse model of the mild dominant form of osteogenesis imperfecta.
Authors: Bonadio J; Saunders TL; Tsai E; Goldstein SA; Morris-Wiman J; Brinkley L; Dolan DF; Altschuler RA; Hawkins JE Jr; Bateman JF; et al.
Journal: Proc Natl Acad Sci U S A
Volume: 87
Issue: 18
Date: 1990 Sep
Year: 1990
Pages: 7145-9
Review Status: Peer Reviewed
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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