These mice carry an ENU-induced mutation characterized by fewer revertants than other dystrophin mutant strains as viewed in quadricep cross-sections.
Dr. Verne M. Chapman (deceased), Roswell Park Memorial Institute
Mice carrying the Dmdmdx-5Cv mutation 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. This strain is also hemizygous for Hprta and Pgk1a (both are on the X chromosome).
his 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 5, Verne Chapman|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||mdx5cv; mdxCv5; mdx5cv|
|Gene Symbol and Name||Dmd, dystrophin, muscular dystrophy|
|Strain of Origin||C3Ha.Cg-Hprta Pgk1a|
|Molecular Note||An A to T transversion at position 1324 in exon 10 creates a new splice donor site in the middle of exon 10. Aberrant splicing from the mutant site to exon 11 creates a 53 bp frameshifting deletion in the encoded mRNA.|
|Mutations Made By|| |
Dr. Verne Chapman (deceased), Roswell Park Memorial Institute
Mdx5 is X-linked. When maintaining a live colony, homozygous females may be bred to hemizygous males.
When using the X linked muscular dystrophy 5, Verne Chapman mouse strain in a publication, please cite the originating article(s) and include JAX stock #002379 in your Materials and Methods section.