OIM and related animal models of osteogenesis imperfecta

Jay R. Shapiro, Daniel J. Mcbride, Neal S. Fedarko

Research output: Contribution to journalArticle

Abstract

Osteogenesis imperfecta (OI) is characterized by fragile bones, skeletal deformity, and growth retardation. This heritable disorder of connective tissue is the result of mutations affecting the COL1 Al and COL1A2 genes of type 1 collagen. Progress in OI sresearch has been limited because of dependence on human fibroblast and osteoblast specimens and the absence of a naturally occurring animal model for this genetic disorder. Recent technology in molecular biology has led to the development of transgenic models of OI based on site directed mutagenesis of type 1 collagen genes. OIM is a naturally occurring model which incorporates both the phenotypic and biochemical defects of moderate to severe osteogenesis imperfecta. This powerful tool permits the development of models based on different type I collagen mutations. The collagen type I mutation in OIM is a C propeptide deletion which impairs the production of normal pro-α2(I). Tissues in OIM contain only [pro-α1(I)]3 homotrimer. Thus, although several animal models are now available for research in osteogenesis imperfecta few are viable or fully mimic human disease disorders. OIM duplicates the phenotype and biochemistry of human disease and has a normal life span.

Original languageEnglish (US)
Pages (from-to)265-268
Number of pages4
JournalConnective tissue research
Volume31
Issue number4
DOIs
StatePublished - Jan 1 1995

Keywords

  • Mutations
  • OIM
  • Osteogenesis imperfecta
  • Transgenic
  • Type I collagen

ASJC Scopus subject areas

  • Rheumatology
  • Biochemistry
  • Orthopedics and Sports Medicine
  • Molecular Biology
  • Cell Biology

Fingerprint Dive into the research topics of 'OIM and related animal models of osteogenesis imperfecta'. Together they form a unique fingerprint.

  • Cite this