The mdx mouse is a popular model for studying
Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pe ...
(DMD).
The mdx mouse has a point mutation in its DMD gene, changing the
amino acid
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. Only these 22 a ...
coding for a glutamine to STOP codon. This causes the muscle
cells
Cell most often refers to:
* Cell (biology), the functional basic unit of life
* Cellphone, a phone connected to a cellular network
* Clandestine cell, a penetration-resistant form of a secret or outlawed organization
* Electrochemical cell, a d ...
to
produce
In American English, produce generally refers to wikt:fresh, fresh List of culinary fruits, fruits and Vegetable, vegetables intended to be Eating, eaten by humans, although other food products such as Dairy product, dairy products or Nut (foo ...
a small, nonfunctional
dystrophin
Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costa ...
protein.
As a result, the mouse has a mild form of DMD where there is increased muscle damage and weakness.
References
Laboratory mouse strains
Muscular dystrophy
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