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
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
FHL1 knockout Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies, including reducing body myopathy and 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.

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.

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.

FHL1 knockout

Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies, including reducing body myopathy and Emery-Dreifuss muscular dystrophy.

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