Characterization of Osteoarthritic Degeneration in sedc Mutant Mice

Authors

David Holt, Brigham Young University
Dr. Robert Seegmiller, Brigham Young University

Keywords

osteoarthritic degeneration, mutant mice, SEDC, spondyloepiphyseal dysplasia congenita

College

Life Sciences

Department

Physiology and Developmental Biology

Abstract

Spondyloepiphyseal dysplasia congenita (SEDC) is a recessive human genetic disorder characterized by skeletal abnormalities and early onset osteoarthritis (OA).1 Type II and the alpha 3 chain of type XI collagen together are integral in the development of normal articular cartilage (AC) and are both encoded by the Col2a1 gene.2 Spondyloepiphyseal dysplasia congenita (sedc) mice have a missense mutation of the Col2a1 gene within the triple helical region of type II collagen, affecting its production, leading to development of abnormal AC.

Recommended Citation

Holt, David and Seegmiller, Dr. Robert (2013) "Characterization of Osteoarthritic Degeneration in sedc Mutant Mice," Journal of Undergraduate Research: Vol. 2013: Iss. 1, Article 1456.
Available at: https://scholarsarchive.byu.edu/jur/vol2013/iss1/1456