mdx mice
mdx mice
| Strain details | |
|---|---|
| Nomenclature | C57BL/10ScSn-Dmdmdx/Ozarc |
| Common name | mdx |
| Synonyms | mdx |
| Strain | Mutant inbred |
| Coat colour | Black (a/a) |
| Species | Mouse |
| Genetic background | Mutant inbred, coisogenic |
| Location | Area Oz2 |
| Weekly wean target | <10 males, <10 females |
Strain description
- MHC haplotype:
- The Dmdmdx strain is a mouse model of Duchenne muscular dystrophy (DMD), a genetic disorder causing muscle weakness.
- These mice have a mutation in the dystrophin gene, leading to the absence of functional dystrophin protein.
- The mdxmutation of Dmd is sex-linked recessive and heterozygous females are visually indistinguishable from wild-type mice. Females homozygous and males hemizygous for the Dmdmdx allele retain a normal lifespan and can survive up to two years.
- Dmdmdx strain may exhibit cystitis and congenital abnormalities such as microphthalmia, corneal opacities, and hydrocephalus.
- Despite muscle pathology, Dmdmdx mice behave normally in terms of locomotor activity and general behaviour.
- Strain received from Australian Neuromuscular Research Institute in 1997 from Dr. Sue Fletcher.
- The Dmdmdx strain is a unique mouse model of DMD, showing atypical phenotypic characteristics compared to other DMD models. It could be valuable for studying the role of dystrophin in muscle and other organ systems, as well as compensatory mechanisms that allow for normal behaviour despite muscle pathology.
Past ARC and transfer reports:
Current Ozgene ARC reports (from 01-Jun-2023)
- This strain is housed in Area Oz2/3/5
- Please see Oz2/3/5 health reports on our Biosecurity page
- Animals are not allowed to be used for propagation
- Ozgene ARC terms and Conditions
- Mouse images are representative only. Actual phenotypes may vary based on genotype, sex, age, husbandry, health status, and other factors.
- Sicinski P, et al. Science. 1989 Jun 30;244(4912):1578-80. doi: 10.1126/science.2662404. PMID: 2662404. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation.
- McGreevy JW, et al. Dis Model Mech. 2015 Mar;8(3):195-213. doi: 10.1242/dmm.018424. PMID: 25740330. Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy.
- Chamberlain JS, et al. FASEB J. 2007 Jul;21(9):2195-204. doi: 10.1096/fj.06- 7353com. PMID: 17360850. Dystrophin-deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyosarcoma.
- Donen G, et al. J Neuromuscul Dis. 2023;10(6):1003-1012. doi: 10.3233/JND- 230126. PMID:37574742. Humanization of the mdx Mouse Phenotype for Duchenne Muscular Dystrophy Modeling: A Metabolic Perspective.
mdx mice: Essential model for Duchenne muscular dystrophy research
The mdx mice are a widely used animal model for studying Duchenne muscular dystrophy (DMD). This model carries a point mutation in the dystrophin gene (DMD gene), which changes the amino acid coding for glutamine to a stop codon, resulting in the production of a truncated and nonfunctional dystrophin protein. The absence of functional dystrophin leads to progressive muscle degeneration and weakness, mirroring the pathological features of DMD in humans.
The mdx mouse model is derived from a spontaneous mutation in the DMD gene and is extensively utilized in research due to its ability to mimic the biochemical and physiological characteristics of muscular dystrophy. These mice exhibit muscle fiber necrosis, elevated serum creatine kinase levels, and progressive muscle weakness, making them invaluable for studying disease mechanisms and testing therapeutic strategies.
The mutation is X-linked, meaning it is located on the X chromosome. Male mice (which have only one X chromosome) that inherit the mutated gene exhibit the disease phenotype, while female mice (which have two X chromosomes) can be carriers if they have one mutated gene and one normal gene.
Application and Research
- Disease mechanism studies: mdx mice are used to explore the underlying mechanisms of muscle degeneration in DMD. Researchers investigate the molecular and cellular pathways involved in dystrophin deficiency and muscle damage.
- Therapeutic development: This model is crucial for developing and testing new treatments for DMD, including gene therapy, exon skipping, and pharmacological interventions. The mdx mice allow for preclinical evaluation of potential therapies before clinical trials in humans.
- Gene function and mutation effects: Studies using mdx mice help in understanding the role of the dystrophin gene and the impact of its mutations on muscle function. These mice are also employed to study the effects of genetic modifiers on disease severity and progression.
- Muscle-brain interaction: Research on mdx mice also delves into the interaction between muscle degeneration and neurological functions, providing insights into the broader impact of DMD on the body.
- Muscle physiology: mdx mice are used to study muscle physiology and the biochemical processes involved in muscle repair and regeneration. These studies help in identifying potential targets for therapeutic intervention.
- Exercise and rehabilitation: Research on exercise and rehabilitation strategies using mdx mice provides valuable data on how physical activity impacts muscle health and disease progression in DMD.
