OIM and related animal models of osteogenesis imperfecta.

Jay Shapiro, D. 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 COL1A1 and COL1A2 genes of type I collagen. Progress in OI research 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 I 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-alpha2(I). Tissues in OIM contain only [pro-alpha1(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
StatePublished - 1995

Fingerprint

Osteogenesis Imperfecta
Collagen Type I
Animals
Animal Models
Mutation
Genes
Tissue
Mutagenesis
Inborn Genetic Diseases
Biochemistry
Molecular biology
Osteoblasts
Fibroblasts
Site-Directed Mutagenesis
Research
Connective Tissue
Molecular Biology
Bone
Technology
Phenotype

ASJC Scopus subject areas

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

Cite this

OIM and related animal models of osteogenesis imperfecta. / Shapiro, Jay; Mcbride, D. J.; Fedarko, Neal S.

In: Connective Tissue Research, Vol. 31, No. 4, 1995, p. 265-268.

Research output: Contribution to journalArticle

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