Difference between revisions of "Model organisms"
From SDMRC
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| [[#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 | | [[#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 | ||
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| + | | [[#nebulin knockout|nebulin knockout]] || Nebulin is a giant modular sarcomeric protein that has been proposed to play critical roles in myofibrillogenesis, thin filament length regulation, and muscle contraction. Nebulin-deficient mice die within 8-11 d after birth, with symptoms including decreased milk intake and muscle weakness. || Ju Chen mailto:juchen@ucsd.edu | ||
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* Read the publication [http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19864491/ here].<br /> | * 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 /> | * '''Human disease''': [http://en.wikipedia.org/wiki/Emery–Dreifuss_muscular_dystrophy Emery-Dreifuss muscular dystrophy (EDMD)]<br /> | ||
| + | * Contact: Ju Chen mailto:juchen@ucsd.edu | ||
| + | |||
| + | === nebulin knockout === | ||
| + | Nebulin is a giant modular sarcomeric protein that has been proposed to play critical roles in myofibrillogenesis, thin filament length regulation, and muscle contraction. Nebulin-deficient mice die within 8-11 d after birth, with symptoms including decreased milk intake and muscle weakness. | ||
| + | * Read the publication [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063916/ here].<br /> | ||
| + | * '''Human disease''': [http://en.wikipedia.org/wiki/Nemaline_myopathy]<br /> | ||
* Contact: Ju Chen mailto:juchen@ucsd.edu | * Contact: Ju Chen mailto:juchen@ucsd.edu | ||
Revision as of 23:33, 12 November 2014
This site contains a list of model organisms to study human myopathies. Please feel free to edit/amend the list.
Contents
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 |
| 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 |
| nebulin knockout | Nebulin is a giant modular sarcomeric protein that has been proposed to play critical roles in myofibrillogenesis, thin filament length regulation, and muscle contraction. Nebulin-deficient mice die within 8-11 d after birth, with symptoms including decreased milk intake and muscle weakness. | 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.
- 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
nesprin-1 knockout
Data suggest that Nesprin 1 may be involved in the pathogenesis of Emery-Dreifuss muscular dystrophy.
- Read the publication here.
- Human disease: Emery-Dreifuss muscular dystrophy (EDMD)
- Contact: Ju Chen mailto:juchen@ucsd.edu
nebulin knockout
Nebulin is a giant modular sarcomeric protein that has been proposed to play critical roles in myofibrillogenesis, thin filament length regulation, and muscle contraction. Nebulin-deficient mice die within 8-11 d after birth, with symptoms including decreased milk intake and muscle weakness.
- Read the publication here.
- Human disease: [1]
- Contact: Ju Chen mailto:juchen@ucsd.edu
