Model organisms

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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 Projects. 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