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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.X25 (Pgk1a Hprta ) Generation N?+1F14p
Generation DefinitionsDonating Investigator Dr. Verne M. Chapman (deceased), Roswell Park Memorial Institute Appearance
black
Related Genotype: a/aDescription
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).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 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.
| Control | ||
|---|---|---|
| See control note: | Controls are provided from the C57BL/6J colony (Stock No. 000664). These only provide an approximate genetic match to this C57BL/6Ros background. | |
| 000664 C57BL/6J | (approximate) | |
| Considerations for Choosing Controls | ||
Strains carrying other alleles of Dmd
017929 B10.Cg-Cmahtm1Avrk Dmdmdx/PtmJ 018018 B10ScSn.Cg-Prkdcscid Dmdmdx/J 002388 B6Ros.Cg-Dmdmdx-2Cv/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)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Muscular Dystrophy, Becker Type; BMD
Muscular Dystrophy, Duchenne Type; DMD
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Cardiomyopathy, Dilated, 3b; CMD3B (DMD)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms provided by MGI
assigned by genotype
Dmdmdx-3Cv/Dmdmdx-3Cv
B6Ros.Cg-Dmdmdx-3Cv
- mortality/aging
- partial preweaning lethality
- fewer than expected mice survive until weaning compared to Dmdmdx mice (MGI Ref ID J:12150)
- reproductive system phenotype
- decreased litter size (MGI Ref ID J:12150)
- reduced fertility
- fewer than exected mice are produced compared to Dmdmdx mice (MGI Ref ID J:12150)
- muscle phenotype
- abnormal diaphragm morphology
- mutant mice exhibit fibrosis, fatty infiltration and necrosis in the diaphragm with increased severity upon aging (MGI Ref ID J:23502)
- centrally nucleated skeletal muscle fibers
- 70% of myofibers contain central nuclei unlike in wild-type mice (MGI Ref ID J:23502)
- increased variability of skeletal muscle fiber size
- in mutant mice, myofibers contain fibers of different diameters with centrally located nuclei (MGI Ref ID J:12150)
- skeletal muscle fibrosis
- mice exhibit fibrosis, fatty infiltration and necrosis in the diaphragm unlike in wild-type mice that increases with age (MGI Ref ID J:23502)
Dmdmdx-3Cv/Dmdmdx-3Cv
B6Ros.Cg-Dmdmdx-3Cv/J
- nervous system phenotype
- abnormal Muller cell morphology
- mice exhibit an alteration in Muller cell current profile such that the current is weakest in the end feet with a gradual increase moving up the proximal process unlike in wild-type cells (MGI Ref ID J:125566)
- vision/eye phenotype
- abnormal Muller cell morphology
- mice exhibit an alteration in Muller cell current profile such that the current is weakest in the end feet with a gradual increase moving up the proximal process unlike in wild-type cells (MGI Ref ID J:125566)
Dmdmdx-3Cv/Y
B6Ros.Cg-Dmdmdx-3Cv
- mortality/aging
- partial preweaning lethality
- fewer than expected mice survive until weaning compared to Dmdmdx mice (MGI Ref ID J:12150)
- reproductive system phenotype
- decreased litter size (MGI Ref ID J:12150)
- reduced fertility
- fewer than exected mice are produced compared to Dmdmdx mice (MGI Ref ID J:12150)
- muscle phenotype
- abnormal diaphragm morphology
- mutant mice exhibit fibrosis, fatty infiltration and necrosis in the diaphragm with increased severity upon aging (MGI Ref ID J:23502)
- centrally nucleated skeletal muscle fibers
- 70% of myofibers contain central nuclei unlike in wild-type mice (MGI Ref ID J:23502)
- increased variability of skeletal muscle fiber size
- in mutant mice, myofibers contain fibers of different diameters with centrally located nuclei (MGI Ref ID J:12150)
- skeletal muscle fibrosis
- mice exhibit fibrosis, fatty infiltration and necrosis in the diaphragm unlike in wild-type mice that increases with age (MGI Ref ID J:23502)
Dmdmdx-3Cv/Y
B6Ros.Cg-Dmdmdx-3Cv/J
- muscle phenotype
- abnormal muscle contractility
- highest specific tetanic force is lower than in wild-type mice (MGI Ref ID J:134272)
- at high frequencies mice titanic force is greater than in Dmdmdx-4Cv mice (MGI Ref ID J:134272)
- following eccentric contraction damage, force is reduced to unlike in wild-type mice that experience only a moderate drop in force but not as severely as in Dmdmdx-4Cv mice (MGI Ref ID J:134272)
- age exacerbates force losses (MGI Ref ID J:134272)
- abnormal skeletal muscle morphology
- vision/eye phenotype
- *normal* vision/eye phenotype
- retina morphology is normal (MGI Ref ID J:53822)
- abnormal Muller cell morphology
- mice exhibit an alteration in Muller cell current profile such that the current is weakest in the end feet with a gradual increase moving up the proximal process unlike in wild-type cells (MGI Ref ID J:125566)
- abnormal eye electrophysiology
- behavior/neurological phenotype
- abnormal grip strength
- mice exhibit stronger grip strength than Dmdmdx-4Cv mice (MGI Ref ID J:134272)
- nervous system phenotype
- abnormal Muller cell morphology
- mice exhibit an alteration in Muller cell current profile such that the current is weakest in the end feet with a gradual increase moving up the proximal process unlike in wild-type cells (MGI Ref ID J:125566)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Dmdmdx-3Cv/Y
involves: C3H/HeHa * C57BL/6Ros * C57BL/10Sn * M. m. castaneus * M. m musculus
- muscle phenotype
- impaired muscle relaxation
- electromyograms reveal peudomyotonia unlike in wild-type mice (MGI Ref ID J:9638)
- skeletal muscle fiber degeneration
- mice exhibit skeletal muscle fiber degeneration (MGI Ref ID J:9638)
- cardiovascular system phenotype
- cardiac fibrosis
- unlike wild-type, some cardiac fibrosis is observed (MGI Ref ID J:9638)
- vision/eye phenotype
- abnormal eye electrophysiology
- although the a-wave amplitude is normal, the b-wave is attenuated by more than 50% (MGI Ref ID J:23375)
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Dmdmdx-3Cv relatedNeurobiology Research
Muscular Dystrophy
Becker type
Duchenne type
Mouse/Human Gene Homologs
muscular dystrophy (Duchenne and Becker)
Neurobiology Research
Muscular Dystrophy
Duchenne type
| Allele Symbol | Dmdmdx-3Cv | ||
|---|---|---|---|
| Allele Name | X linked muscular dystrophy 3, Verne Chapman | ||
| Allele Type | Chemically induced (ENU) | ||
| Common Name(s) | mdx3cv; mdx3cv; mdx3cv; mdxcv3; | ||
| 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 | A T to A transversion creates a novel splice acceptor site 14 bp upstream of the natural site in exon 66. Splicing at this mutant site results in the inclusion of 14 bp of intronic sequence and shifts the reading frame of the encoded mRNA. While a low level of a smaller transcript is expressed from this allele, western blot analysis failed to detect any isoform of protein in various tissues from homozygous mutant mice. [MGI Ref ID J:12150] | ||
Shin JH, Hakim CH, Zhang K, Duan D. 2011. Genotyping mdx, mdx3cv, and mdx4cv mice by primer competition polymerase chain reaction. Muscle Nerve 43(2):283-6. [PubMed: 21254096]
Genotyping resources and troubleshooting
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]
Shin JH; Hakim CH; Zhang K; Duan D. 2011. Genotyping mdx, mdx3cv, and mdx4cv mice by primer competition polymerase chain reaction. Muscle Nerve 43(2):283-6. [PubMed: 21254096] [MGI Ref ID J:169288]
Cox GA; Phelps SF; Chapman VM; Chamberlain JS. 1993. New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin. Nat Genet 4(1):87-93. [PubMed: 8099842] [MGI Ref ID J:12150]
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]
Pillers DM; Weleber RG; Woodward WR; Green DG; Chapman VM; Ray PN. 1995. mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy. Invest Ophthalmol Vis Sci 36(2):462-6. [PubMed: 7843915] [MGI Ref ID J:23375]
Dmdmdx-3Cv relatedBlank M; Koulen P; Blake DJ; Kroger S. 1999. Dystrophin and beta-dystroglycan in photoreceptor terminals from normal and mdx3Cv mouse retinae. Eur J Neurosci 11(6):2121-33. [PubMed: 10336681] [MGI Ref ID J:108090]
Connors NC; Kofuji P. 2002. Dystrophin Dp71 is critical for the clustered localization of potassium channels in retinal glial cells. J Neurosci 22(11):4321-7. [PubMed: 12040037] [MGI Ref ID J:125566]
Cote PD; Moukhles H; Carbonetto S. 2002. Dystroglycan is not required for localization of dystrophin, syntrophin, and neuronal nitric-oxide synthase at the sarcolemma but regulates integrin alpha 7B expression and caveolin-3 distribution. J Biol Chem 277(7):4672-9. [PubMed: 11741881] [MGI Ref ID J:74657]
Cox GA; Phelps SF; Chapman VM; Chamberlain JS. 1993. New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin. Nat Genet 4(1):87-93. [PubMed: 8099842] [MGI Ref ID J:12150]
Cox GA; Sunada Y; Campbell KP; Chamberlain JS. 1994. Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy [see comments] Nat Genet 8(4):333-9. [PubMed: 7894482] [MGI Ref ID J:21841]
D'Souza VN; Nguyen TM; Morris GE; Karges W; Pillers DA; Ray PN. 1995. A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet 4(5):837-42. [PubMed: 7633443] [MGI Ref ID J:25211]
Dalloz C; Claudepierre T; Rodius F; Mornet D; Sahel J; Rendon A. 2001. Differential distribution of the members of the dystrophin glycoprotein complex in mouse retina: effect of the mdx(3Cv) mutation. Mol Cell Neurosci 17(5):908-20. [PubMed: 11358487] [MGI Ref ID J:127279]
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]
Enger R; Gundersen GA; Haj-Yasein NN; Eilert-Olsen M; Thoren AE; Vindedal GF; Petersen PH; Skare O; Nedergaard M; Ottersen OP; Nagelhus EA. 2012. Molecular scaffolds underpinning macroglial polarization: An analysis of retinal Muller cells and brain astrocytes in mouse. Glia 60(12):2018-26. [PubMed: 22987438] [MGI Ref ID J:187957]
Fort P; Estrada FJ; Bordais A; Mornet D; Sahel JA; Picaud S; Vargas HR; Coral-Vazquez RM; Rendon A. 2005. The sarcoglycan-sarcospan complex localization in mouse retina is independent from dystrophins. Neurosci Res 53(1):25-33. [PubMed: 15993965] [MGI Ref ID J:105123]
Godfraind JM; Tekkok SB; Krnjevic K. 2000. Hypoxia on hippocampal slices from mice deficient in dystrophin (mdx) and isoforms (mdx3cv). J Cereb Blood Flow Metab 20(1):145-52. [PubMed: 10616803] [MGI Ref ID J:60086]
Greenberg DS; Schatz Y; Levy Z; Pizzo P; Yaffe D; Nudel U. 1996. Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71. Hum Mol Genet 5(9):1299-303. [PubMed: 8872469] [MGI Ref ID J:35275]
Greenberg DS; Sunada Y; Campbell KP; Yaffe D; Nudel U. 1994. Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice [see comments] Nat Genet 8(4):340-4. [PubMed: 7894483] [MGI Ref ID J:22142]
Haenggi T; Schaub MC; Fritschy JM. 2005. Molecular heterogeneity of the dystrophin-associated protein complex in the mouse kidney nephron: differential alterations in the absence of utrophin and dystrophin. Cell Tissue Res 319(2):299-313. [PubMed: 15565469] [MGI Ref ID J:105083]
Haenggi T; Soontornmalai A; Schaub MC; Fritschy JM. 2004. The role of utrophin and Dp71 for assembly of different dystrophin-associated protein complexes (DPCs) in the choroid plexus and microvasculature of the brain. Neuroscience 129(2):403-13. [PubMed: 15501597] [MGI Ref ID J:94669]
Hernandez-Gonzalez EO; Mornet D; Rendon A; Martinez-Rojas D. 2005. Absence of Dp71 in mdx3cv mouse spermatozoa alters flagellar morphology and the distribution of ion channels and nNOS. J Cell Sci 118(Pt 1):137-45. [PubMed: 15601658] [MGI Ref ID J:94691]
Li D; Yue Y; Duan D. 2010. Marginal level dystrophin expression improves clinical outcome in a strain of dystrophin/utrophin double knockout mice. PLoS One 5(12):e15286. [PubMed: 21187970] [MGI Ref ID J:168677]
Li D; Yue Y; Duan D. 2008. Preservation of muscle force in mdx3cv mice correlates with low-level expression of a near full-length dystrophin protein. Am J Pathol 172(5):1332-41. [PubMed: 18385524] [MGI Ref ID J:134272]
Nicchia GP; Rossi A; Nudel U; Svelto M; Frigeri A. 2008. Dystrophin-dependent and -independent AQP4 pools are expressed in the mouse brain. Glia 56(8):869-76. [PubMed: 18338794] [MGI Ref ID J:156273]
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]
Pillers DM; Weleber RG; Woodward WR; Green DG; Chapman VM; Ray PN. 1995. mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy. Invest Ophthalmol Vis Sci 36(2):462-6. [PubMed: 7843915] [MGI Ref ID J:23375]
Rafael JA; Nitta Y; Peters J; Davies KE. 2000. Testing of SHIRPA, a mouse phenotypic assessment protocol, on Dmd(mdx) and Dmd(mdx3cv) dystrophin-deficient mice. Mamm Genome 11(9):725-8. [PubMed: 10967129] [MGI Ref ID J:64319]
Rafael JA; Trickett JI; Potter AC; Davies KE. 1999. Dystrophin and utrophin do not play crucial roles in nonmuscle tissues in mice. Muscle Nerve 22(4):517-9. [PubMed: 10204788] [MGI Ref ID J:116348]
Turk R; Sterrenburg E; van der Wees CG; de Meijer EJ; de Menezes RX; Groh S; Campbell KP; Noguchi S; van Ommen GJ; den Dunnen JT; 't Hoen PA. 2006. Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J 20(1):127-9. [PubMed: 16306063] [MGI Ref ID J:104560]
Vaillend C; Billard JM; Claudepierre T; Rendon A; Dutar P; Ungerer A. 1998. Spatial discrimination learning and CA1 hippocampal synaptic plasticity in mdx and mdx3cv mice lacking dystrophin gene products. Neuroscience 86(1):53-66. [PubMed: 9692743] [MGI Ref ID J:48768]
Vaillend C; Ungerer A. 1999. Behavioral characterization of mdx3cv mice deficient in C-terminal dystrophins. Neuromuscul Disord 9(5):296-304. [PubMed: 10407849] [MGI Ref ID J:56477]
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 for USA, Canada and Mexico shipping destinations |
|
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3000.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
|
|
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
| Control | ||
|---|---|---|
| See control note: | Controls are provided from the C57BL/6J colony (Stock No. 000664). These only provide an approximate genetic match to this C57BL/6Ros background. | |
| 000664 C57BL/6J | (approximate) | |
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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