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Title: The pathomolecular mechanisms in a murine model of multiple epiphyseal dysplasia
Author: Nundlall, Seema
ISNI:       0000 0001 3450 4352
Awarding Body: Manchester University
Current Institution: University of Manchester
Date of Award: 2008
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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.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available