Model organisms
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 [http:../funding.html 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