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Revision as of 01:22, 10 November 2014
This site contains a list of model organisms to study human myopathies. Please feel free to edit/amend the list.
Mdx mutation
MDX mutant mice do not express dystrophin and are used as a model system for Duchenne Muscular Dystrophy.
More information: More information on the mouse model (JAX lab)
Human disease: Duchenne Muscular Dystrophy
Contact: Alessandra Sacco mailto:asacco@sanfordburnham.org
mdx/mTR
MDX mice lacking the RNA component of telomerase (mdx/mTR) have shortened telomeres in muscle cells and severe muscular dystrophy that progressively worsens with age.
Read the publication here.
Human disease: Duchenne Muscular Dystrophy
Contact: Alessandra Sacco mailto:asacco@sanfordburnham.org
obscurin knockout
The obscurin mouse develops a mild skeletal muscle myopathy, characterised by an age-dependent increase in centralised nuclei.
Read the publication here or find more information on an SDMRC funded Pilot Project. More general information on the role of obscurin proteins for muscles can be found here.
Human disease: Limb-girdle Muscular Dystrophy
Contact: Stephan Lange mailto:slange@ucsd.edu
