Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Chemically Induced Mutation; Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6Ros Donor Strain C3Ha.X 25 (Pgk1a Hprta) Generation N13F13p Generation Definitions   Donating Investigator Dr. Verne M. Chapman (deceased),   Roswell Park Memorial Institute

Appearance
black
Related Genotype: a/a

Description
Mice carrying the Dmd^mdx-2Cv mutation display a phenotype similar to the original Dmd^mdx mutation. Dmd^mdx-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 Dmd^mdx-4Cv and Dmd^mdx-5Cv strains have 10 times fewer revertants than the Dmd^mdx and Dmd^mdx-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 Dmd^mdx 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 Hprt^a and Pgk1^a (both are on the X chromosome).

Development
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 Pgk1^a (from a wild Mus musculus musculus mouse trapped in Denmark) and Hprt^a (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-Dmd^mdx/+ 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-Dmd^mdx/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 Dmd^mdx-2-5Cv . Each of these new mutations was subsequently backcrossed onto C57BL/6Ros.

Control Information

	Control
	000664 C57BL/6J	(approximate)
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Dmd

017929	B10.Cg-Cmahtm1Avrk Dmdmdx/PtmJ
018018	B10ScSn.Cg-Prkdcscid Dmdmdx/J
002377	B6Ros.Cg-Dmdmdx-3Cv/J
002378	B6Ros.Cg-Dmdmdx-4Cv/J
002379	B6Ros.Cg-Dmdmdx-5Cv/J
001801	C57BL/10ScSn-Dmdmdx/J
013141	D2.B10-Dmdmdx/J
018915	STOCK Terctm1Rdp Dmdmdx/J
016622	STOCK Utrntm1Jrs Dmdmdx/J
014563	STOCK Utrntm1Ked Dmdmdx/J

View Strains carrying other alleles of Dmd     (10 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Cardiomyopathy, Dilated, 3b; CMD3B   (DMD) Muscular Dystrophy, Becker Type; BMD   (DMD) Muscular Dystrophy, Duchenne Type; DMD   (DMD)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Dmd^mdx-2Cv/Dmd^mdx-2Cv

        B6Ros.Cg-Dmd^mdx-2Cv

• muscle phenotype
• abnormal diaphragm morphology
  • mice exhibit fibrosis, fatty infiltration and necrosis in the diaphragm unlike in wild-type mice that increases with age   (MGI Ref ID J:23502)
• skeletal muscle fibrosis
  • mice exhibit progressive fibrosis of the diaphragm with age, unlike in wild-type mice   (MGI Ref ID J:23502)

Dmd^mdx-2Cv/Y

        B6Ros.Cg-Dmd^mdx-2Cv

• muscle phenotype
• abnormal diaphragm morphology
  • mice exhibit fibrosis, fatty infiltration and necrosis in the diaphragm unlike in wild-type mice that increases with age   (MGI Ref ID J:23502)
• skeletal muscle fibrosis
  • mice exhibit progressive fibrosis of the diaphragm with age, unlike in wild-type mice   (MGI Ref ID J:23502)

Dmd^mdx-2Cv/Y

        B6Ros.Cg-Dmd^mdx-2Cv/J

• vision/eye phenotype
• abnormal eye electrophysiology
  • derived positive (P2) responses are delayed compared to in wild-type mice   (MGI Ref ID J:53822)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Dmd^mdx-2Cv/Y

        involves: C3H/HeHa * C57BL/6Ros * C57BL/10Sn * M. m. castaneus * M. m musculus

• muscle phenotype
• abnormal skeletal muscle fiber morphology
  • mice exhibit skeletal muscle fiber degeneration, regeneration and sometimes fibrosis   (MGI Ref ID J:9638)
• • skeletal muscle fiber degeneration
    • mice exhibit skeletal muscle fiber degeneration, regeneration and sometimes fibrosis   (MGI Ref ID J:9638)
• impaired muscle relaxation
  • electromyograms reveal peudomyotonia unlike in wild-type mice   (MGI Ref ID J:9638)
• cardiovascular system phenotype
• cardiac fibrosis
  • unlike wild-type, minimal to focal cardiac fibrosis is observed   (MGI Ref ID J:9638)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Mouse/Human Gene Homologs
muscular dystrophy (Duchenne and Becker)

Neurobiology Research
Muscular Dystrophy
      Becker type
      Duchenne type

Dmd^mdx-2Cv related

Mouse/Human Gene Homologs
muscular dystrophy (Duchenne and Becker)

Neurobiology Research
Muscular Dystrophy
      Becker type
      Duchenne type

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Dmdmdx-2Cv
Allele Name		X linked muscular dystrophy 2, Verne Chapman
Allele Type		Chemically induced (ENU)
Common Name(s)		mdx2cv;
Mutation Made By		Dr. Verne Chapman (deceased),   Roswell Park Memorial Institute
Strain of Origin		C3Ha.Cg-Hprt Pgk1
Gene Symbol and Name		Dmd, dystrophin, muscular dystrophy
Chromosome		X
Gene Common Name(s)		BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; Dp427; Dp71; Duchenne muscular dystrophy; X-linked muscular dystrophy; mdx; pke; pyruvate kinase expression;
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. [MGI Ref ID J:34517]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Chapman VM; Miller DR; Armstrong D; Caskey CT. 1989. Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. Proc Natl Acad Sci U S A 86(4):1292-6. [PubMed: 2919177]  [MGI Ref ID J:9638]

Additional References

Danko I; Chapman V; Wolff JA. 1992. The frequency of revertants in mdx mouse genetic models for Duchenne muscular dystrophy. Pediatr Res 32(1):128-31. [PubMed: 1635838]  [MGI Ref ID J:23502]

Dmd^mdx-2Cv related

Danko I; Chapman V; Wolff JA. 1992. The frequency of revertants in mdx mouse genetic models for Duchenne muscular dystrophy. Pediatr Res 32(1):128-31. [PubMed: 1635838]  [MGI Ref ID J:23502]

Im WB; Phelps SF; Copen EH; Adams EG; Slightom JL; Chamberlain JS. 1996. Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Hum Mol Genet 5(8):1149-53. [PubMed: 8842734]  [MGI Ref ID J:34517]

Pillers DA; Weleber RG; Green DG; Rash SM; Dally GY; Howard PL ; Powers MR ; Hood DC ; Chapman VM ; Ray PN ; Woodward WR. 1999. Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants. Mol Genet Metab 66(2):100-10. [PubMed: 10068512]  [MGI Ref ID J:53822]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	000664 C57BL/6J	(approximate)
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX^® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX^® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX^® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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