title: What do mouse models of muscular dystrophy tell us about the DAPC and its components?
abstract: 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.
authors.affiliation: Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, Institute of Child Health, University College London, London, UK.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Whitmore
authors.forename: Jennifer
authors.initials: J
authors.lastname: Morgan
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D049030:Dystroglycans / Q000235:genetics* / Q000378:metabolism*; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D018101:Mice, Inbred mdx; D018345:Mice, Knockout; D046912:Multiprotein Complexes / Q000235:genetics / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
chemical_list: D016189:Dystrophin; D046912:Multiprotein Complexes; C085339:apo-dystrophin 1; D049030:Dystroglycans
keywords: dystroglycan; dystrophin; mdx; mouse models; muscular dystrophy