JAX performs efficacy studies on mouse models for these diseases: C57BL10.mdx and D2.mdx for DMD, DyW for CMD1A, and A/J for dysferlinopathy. Additional mouse mutants are available for studies.
Efficacy studies performed by JAX® In Vivo Services evaluate muscle function with readouts such as rotarod performance, time to exhaustion with forced exercise, grip strength, and locomotor testing in response to therapeutics. Assessment of inflammation and fibrosis are new offerings to determine amelioration following treatment. Available tests include:
|Strain||Ambulation & Strength||Serum CK||Fibrosis||Inflammation||Morphometry|
|B10.mdx (001801)||No loss||Very High||Mild||Very high||Hypertrophy|
|A/J (000646)||No loss||High||Mild||High||Atrophy|
|DyW (013786) *
Duchenne Muscular Dystrophy (DMD) is one of the most common lethal genetic disease of childhood. It is an inherited X-linked disorder that results in the loss of or aberrant function of dystrophin, a protein involved in maintaining muscle integrity. Onset occurs in infancy and disease phenotypes include muscle weakness, loss of locomotion, and inflammation of the muscles. The following mouse models mimic various aspects of the human disease:
View the publication Effect of genetic background on the dystrophic phenotype in mdx mice in the Oxford Journals.
Congenital Muscular Dystrophy onset occurs at birth. Disease phenotypes include diminished muscle tone and muscle degeneration. The following mouse models mimic various aspects of the human disease:
Dysferlinopathy, or Limb-girdle muscular dystrophy type 2B (LGMD2B) onset occurs in young adults. The progressive muscle wasting is variable between patients. The following mouse models mimic various aspects of the human disease:
Examples of necrosis and fibers atrophy (top, right), fat infiltration (bottom left) and inflammation (bottom right), hallmarks of the muscle disease in different strains. The pathology of the B10.mdx (top left) is comparatively mild.
Resources for people who are interested in learning more about rare diseases, clinical trials, and research programs.
Neuromuscular diseases start by hampering mobility and progress to threatening vital processes like breathing and swallowing. Greg Cox...
350 million people are affected by rare and orphan disease. The Rare and Orphan Disease Center conducts research to better...
Three studies published in Science (January 2016) successfully used CRISPR/Cas9-mediated genome editing in vivo to partially restore...
Data from dystrophin (Dmd) and telomerase (Terc) double-deficient mice link shortened telomeres to increased disease...
International database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data.
Muscle stem cells grown on an artificial scaffold in an optimized medium demonstrate preserved quiescence in vitro and enhanced...
There are more than 7,000 rare (also known as orphan) diseases affecting over 350 million people worldwide. Developing new therapies for...
The Jackson Laboratory has a large collection of mouse models of muscular dystrophy.
Researches the molecular pathways of human degenerative muscle diseases.
Dr. Burgess is studying Charcot-Marie Tooth syndrome, a genetic neurological disorder that causes damage to the peripheral nerves, the...
A mouse model of spinal muscular atrophy developed at The Jackson Laboratory lay the foundation for the successful clinical...
Rare and Orphan Disease Research Tools and Online Resources
The Jackson Laboratory offers the world's largest collection of spontaneous, targeted, and transgenic mutant mouse strains,...
C57BL/10ScSn-Dmdmdx/J mice (001801), commonly called mdx, are the most published model of Duchenne’s muscular dystrophy. The mice carry a...
These cookies are required for basic site operations.
Allow Essential cookies
Analytics cookies are used to analyze web traffic to improve the user experience.
Allow Analytics cookies
Allow Marketing cookies