These mice carry an ENU-induced mutation characterized by a faint dystrophin immunofluorescence in skeletal sarcolemma and skeletal muscle in contrast to the other mutants which show no dystrophin reactivity.
Dr. Verne M. Chapman (deceased), Roswell Park Memorial Institute
Mice carrying the Dmdmdx-2Cv mutation display a phenotype similar to the original Dmdmdx mutation. Dmdmdx-3Cv mutant mice display a faint dystrophin immunofluorescence in skeletal sarcolemma and skeletal muscle in contrast to the other mutants which show no dystrophin reactivity. This is similar to a group of human DMD patients. This mutant has a low frequency of revertants. The Dmdmdx-4Cv and Dmdmdx-5Cv strains have 10 times fewer revertants than the Dmdmdx and Dmdmdx-2Cv strains as viewed in quadricep cross-sections. This is not attributable to genetic background or viral infections. These reversion rate differences may be attributable to differences in the location of the point mutation. The large number of revertants in Dmdmdx mutants has complicated the analysis of gene or cell therapies. These mutants are more useful for this purpose. All these strains are also hemizygous for Hprta and Pgk1a (both are on the X chromosome).
This strain was created in the laboratory of Verne M. Chapman. A C57BL/6Ros female was crossed to a male of strain C3Ha.X25, a double congenic strain carrying Pgk1a (from a wild Mus musculus musculus mouse trapped in Denmark) and Hprta (from Mus castaneus) on a C3H/HeHa background. F1 or F2 male progeny of this cross were treated with n-ethylnitrosourea (ENU) and crossed to C57BL/10Sn-Dmdmdx/+ females. Female offspring of these crosses that exhibited consistently elevated plasma creatine kinase levels and that carried the X-chromosome markers of their mutagenized male progenitors were bred to C57BL/10Sn-Dmdmdx/Y males. Transmission to male progeny of the elevated plasma CK phenotype and failure of the suspected new mutations at the Dmd locus to complement the classical mdx mutation identified four new mutations of Dmd, called Dmdmdx-2-5Cv . Each of these new mutations was subsequently backcrossed onto C57BL/6Ros.
|Allele Name||X linked muscular dystrophy 2, Verne Chapman|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Dmd, dystrophin, muscular dystrophy|
|Strain of Origin||C3Ha.Cg-Hprta Pgk1a|
|Molecular Note||An A to T transversion two nucleotides 5' to the intron 42/exon 43 splice accesptor site. This mutation abolishes splicing at this site and induces aberrant splice products that do not preserve the reading frame.|
|Mutations Made By|| |
Dr. Verne Chapman (deceased), Roswell Park Memorial Institute
When using the X linked muscular dystrophy 2, Verne Chapman mouse strain in a publication, please cite the originating article(s) and include JAX stock #002388 in your Materials and Methods section.
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