Model organisms
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 |
| Cypher knockout | Cypher is a member of a recently emerging family of proteins containing a PDZ domain at their NH(2) terminus and one or three LIM domains at their COOH terminus. Cypher knockout mice display a severe form of congenital myopathy and die postnatally from functional failure in multiple striated muscles. | 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: Nemaline Myopathy
- Contact: Ju Chen mailto:juchen@ucsd.edu
Cypher knockout
Cypher is a member of a recently emerging family of proteins containing a PDZ domain at their NH(2) terminus and one or three LIM domains at their COOH terminus. Cypher knockout mice display a severe form of congenital myopathy and die postnatally from functional failure in multiple striated muscles.
- Read the publication [1].
- Human disease: Zaspopathy
- Contact: Ju Chen mailto:juchen@ucsd.edu
