View source for Model organisms

This site contains a list of model organisms to study human myopathies. Please feel free to edit/amend the list.

== Mouse models ==

'''''Table of mouse models'''''
{| class="wikitable sortable"
|-
! mouse model !! description !! contact
|-
| [[#Mdx mutation|Mdx mutation]] || MDX mutant mice do not express dystrophin and are used as a model system for Duchenne Muscular Dystrophy. || Alessandra Sacco mailto:asacco@sanfordburnham.org
|-
| [[#mdx/mTR|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. || Alessandra Sacco mailto:asacco@sanfordburnham.org
|-
| [[#Obscurin knockout|Obscurin knockout]]  || The obscurin mouse develops a mild skeletal muscle myopathy, characterised by an age-dependent increase in centralised nuclei.  || Stephan Lange mailto:slange@ucsd.edu
|-
| [[#nesprin-1 knockout|nesprin-1 knockout]]  || Data suggest that Nesprin 1 may be involved in the pathogenesis of Emery-Dreifuss muscular dystrophy.  || Ju Chen mailto:juchen@ucsd.edu
|}


=== Mdx mutation ===
MDX mutant mice do not express dystrophin and are used as a model system for Duchenne Muscular Dystrophy. <br />
* More information: [http://jaxmice.jax.org/strain/001801.html More information on the mouse model (JAX lab)]<br />
* '''Human disease''': [http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy Duchenne Muscular Dystrophy]<br />
* 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.<br />
* Read the publication [http://www.ncbi.nlm.nih.gov/pubmed/21145579 here].<br />
* '''Human disease''': [http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy Duchenne Muscular Dystrophy]<br />
* 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 [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 />
* Contact: Stephan Lange mailto:slange@ucsd.edu

=== nesprin-1 knockout ===
Data suggest that Nesprin 1 may be involved in the pathogenesis of Emery-Dreifuss muscular dystrophy.
* Read the publication [http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19864491/ here].<br />
* '''Human disease''': [http://en.wikipedia.org/wiki/Emery–Dreifuss_muscular_dystrophy Emery-Dreifuss muscular dystrophy (EDMD)]<br />
* Contact: Ju Chen mailto:juchen@ucsd.edu