Model organisms

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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
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.

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.

Obscurin knockout

The obscurin mouse develops a mild skeletal muscle myopathy, characterised by an age-dependent increase in centralised nuclei.

nesprin-1 knockout

Data suggest that Nesprin 1 may be involved in the pathogenesis of Emery-Dreifuss muscular dystrophy.

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.