Difference between revisions of "Model organisms"
From SDMRC
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! mouse model !! description !! contact | ! mouse model !! description !! contact | ||
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| − | | [[#Mdx|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 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 |
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| − | | 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 | + | | [[#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 |
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| − | | 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 | + | | [[#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 |
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=== Mdx mutation === | === Mdx mutation === | ||
MDX mutant mice do not express dystrophin and are used as a model system for Duchenne Muscular Dystrophy. <br /> | MDX mutant mice do not express dystrophin and are used as a model system for Duchenne Muscular Dystrophy. <br /> | ||
Revision as of 22:06, 10 November 2014
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
| mouse model | description | contact |
|---|---|---|
| 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 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 | The obscurin mouse develops a mild skeletal muscle myopathy, characterised by an age-dependent increase in centralised nuclei. | Stephan Lange mailto:slange@ucsd.edu |
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
