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What do mouse models of muscular dystrophy tell us about the DAPC and its components?
Author(s) -
Whitmore Charlotte,
Morgan Jennifer
Publication year - 2014
Publication title -
international journal of experimental pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.671
H-Index - 72
eISSN - 1365-2613
pISSN - 0959-9673
DOI - 10.1111/iep.12095
Subject(s) - dystrophin , muscular dystrophy , pathogenesis , phenotype , mdx mouse , biology , mutation , dysferlin , duchenne muscular dystrophy , genetics , microbiology and biotechnology , neuroscience , immunology , gene
Summary There are over 30 mouse models with mutations or inactivations in the dystrophin‐associated protein complex. This complex is thought to play a crucial role in the functioning of muscle, as both a shock absorber and signalling centre, although its role in the pathogenesis of muscular dystrophy is not fully understood. The first mouse model of muscular dystrophy to be identified with a mutation in a component of the dystrophin‐associated complex (dystrophin) was the mdx mouse in 1984. Here, we evaluate the key characteristics of the mdx in comparison with other mouse mutants with inactivations in DAPC components, along with key modifiers of the disease phenotype. By discussing the differences between the individual phenotypes, we show that the functioning of the DAPC and consequently its role in the pathogenesis is more complicated than perhaps currently appreciated.