The mdx mouse is a popular model for studying Duchenne muscular dystrophy (DMD).[1][2] The mdx mouse has a point mutation in its DMD gene, changing the amino acid coding for a glutamine to STOP codon. This causes the muscle cells to produce a small, nonfunctional dystrophin protein.[3] As a result, the mouse has a mild form of DMD where there is increased muscle damage and weakness.
History
The mdx mouse was first described in 1984 by Bulfield et al. in a colony of C57BL/10ScSn mice, showing elevated muscle creatine kinase (CK) and histological lesions characteristic of muscular dystrophy.[4]
In 1989, Sicinski et al. identified the precise mutation: a C-to-T transition (nonsense point mutation) in exon 23 of the Dmd gene, creating a premature stop codon and abolishing full-length dystrophin expression. This makes mdx mice a key model for Duchenne muscular dystrophy.[5]
References
- ^ McArdle, Anne. (1993). Mechanisms skeletal muscle damage in the dystrophin-deficient MDX mouse (PhD thesis). University of Liverpool. OCLC 53496566. EThOS uk.bl.ethos.385144.
- ^ Bulfield, G.; Siller, W. G.; Wight, P. A.; Moore, K. J. (1984). “X chromosome-linked muscular dystrophy (mdx) in the mouse”. Proceedings of the National Academy of Sciences of the United States of America. 81 (4): 1189–1192. Bibcode:1984PNAS…81.1189B. doi:10.1073/pnas.81.4.1189. PMC 344791. PMID 6583703.
- ^ “Animal Models – Parent Project Muscular Dystrophy”. parentprojectmd.org. Retrieved 2016-05-03.
- ^ Bulfield, G; Siller, W G; Wight, P A; Moore, K J (February 1984). “X chromosome-linked muscular dystrophy (mdx) in the mouse”. Proceedings of the National Academy of Sciences. 81 (4): 1189–1192. doi:10.1073/pnas.81.4.1189. ISSN 0027-8424. PMC 344791.
- ^ Sicinski, Piotr; Geng, Yan; Ryder-Cook, Allan S.; Barnard, Eric A.; Darlison, Mark G.; Barnard, Pene J. (1989-06-30). “The Molecular Basis of Muscular Dystrophy in the mdx Mouse: a Point Mutation”. Science. 244 (4912): 1578–1580. doi:10.1126/science.2662404. ISSN 0036-8075.