Difference between revisions of "Model organisms"
| Line 17: | Line 17: | ||
== 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 | + | 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 02:32, 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
