Multiple epiphyseal dysplasia (MED) is characterized by dwarfism and early-onset osteoarthritis and can result from mutations in the gene encoding matrilin-3 (MATN3). To determine the precise disease mechanisms that underpin the pathophysiology of MED, a knock-in murine model of MED has recently been generated with the disease-causing matn3: V194D mutation. Mice that are homozygous for the mutation (MM) are normal at birth but develop a progressive dysplasia that is characterized by the intracellular retention of mutant matrilin-3. The mutant mice also display a significant decrease in chondrocyte proliferation and dysregulated apoptosis by 3 weeks of age.
| Identifer | oai:union.ndltd.org:bl.uk/oai:ethos.bl.uk:492857 |
| Date | January 2008 |
| Creators | Nundlall, Seema |
| Publisher | University of Manchester |
| Source Sets | Ethos UK |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
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