Difference between revisions of "Model organisms"
From SDMRC
| Line 15: | Line 15: | ||
== obscurin knockout == | == obscurin knockout == | ||
The obscurin mouse develops a mild skeletal muscle myopathy, characterised by an age-dependent increase in centralised nuclei. | The obscurin mouse develops a mild skeletal muscle myopathy, characterised by an age-dependent increase in centralised nuclei. | ||
| − | * Read the publication [http://www.ncbi.nlm.nih.gov/pubmed/19584095 here] or find more information on an SDMRC funded Pilot Projects. | + | * Read the publication [http://www.ncbi.nlm.nih.gov/pubmed/19584095 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 [http://slangelab.ucsd.edu/obscurin.html here].<br /> |
| − | + | ||
* '''Human disease''': [http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy Limb-girdle Muscular Dystrophy]<br /> | * '''Human disease''': [http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy Limb-girdle Muscular Dystrophy]<br /> | ||
* Contact: Stephan Lange mailto:slange@ucsd.edu | * Contact: Stephan Lange mailto:slange@ucsd.edu | ||
Revision as of 17:56, 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 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
