Overview

Also Known As:D2 utr/mdx

This double mutant (targeted/spontaneous mutation) mouse strain may be useful in studies of neuromuscular junctions, and hereditary neuropathies, specifically Duchenne Type Muscular Dystrophy.

Donating Investigator

Kay Davies, University of Oxford

Genetic overview

Genetic Background	Generation

Dmd^mdx

Allele Type	Gene Symbol	Gene Name
Spontaneous	Dmd	dystrophin, muscular dystrophy

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout)	Utrn	utrophin

Research Applications

Neurobiology Research
Sensorineural Research
Mouse/Human Gene Homologs
Cell Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Development

The spontaneous mutation Dmd^mdx arose just prior to 1977 at the Agricultural Research Council's Poultry Research Centre, U.K., in C57BL/10ScSn mice obtained from M. Festing (MRC Laboratory Animals Centre, Carshalton, Surrey, U.K.). Mice carrying the mdx allele were imported to The Jackson Laboratory as Stock No. 001801 in 1984 by Dr. Thomas Roderick, who received them from Dr. Karen Moore (Department of Genetics, University of California, Berkley). Upon arrival, some mice were bred to DBA/2J inbred mice (Stock No. 000671) using a marker-assisted, speed congenic approach to generate a DBA/2J-congenic strain.

For the Utrn^tm1Ked targeted mutation, a targeting vector containing a PGK-Neo cassette was used to disrupt exon 7. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-Kitl⁺ derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting male chimeric animals were crossed to (DBA/2 X C57BL/6) F1 female mice. Heterozygotes were interbred to generate homozygotes. Upon arrival at The Jackson Laboratory as Stock No. 013158, the mice were crossed to B6D2F1/J mice (Stock No. 100006) at least once to establish the colony. Some mice were bred to DBA/2J inbred mice using a marker-assisted, speed congenic approach to generate a DBA/2J-congenic strain.

This double mutant strain (Stock No. 022506) was generated by crossing DBA/2J backcrossed Dmd^mdx/J mice and Utrn^tm1Ked/J mice.

Control Suggestions

Wild-type from the colony

Approximate Controls

Additional Information

Considerations for Choosing Controls

Selected References

Deconinck AE; Potter AC; Tinsley JM; Wood SJ; Vater R; Young C; Metzinger L; Vincent A; Slater CR; Davies KE. 1997. Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice. J Cell Biol 136(4):883-94PubMed: 9049253 MGI: J:70949
Moore K; Bulfield G. 1981. Research News (Dmd) Mouse News Lett 64:61MGI: J:28684

View All References

Genetics

Dmd^mdx

Allele Symbol: Dmd^mdx

Allele Name	X linked muscular dystrophy
Allele Type	Spontaneous
Allele Synonym(s)	mdx; pke; pyruvate kinase expression
Gene Symbol and Name	Dmd, dystrophin, muscular dystrophy
Gene Synonym(s)
Strain of Origin	C57BL/10ScSn
Chromosome	X
Molecular Note	This mutation arose in 1981 in a C57BL/10ScSn colony at University of Leicester. A C-to-T substitution in the CAA codon in exon 23 (ENSMUST00000114000 chrX:g.83803333C>T; c.2983C>T; p.Q995*) results in a termination codon (TAA) in place of a glutamine codon. This allele is predicted to produce a truncated protein.

Utrn^tm1Ked

Allele Symbol: Utrn^tm1Ked

Allele Name	targeted mutation 1, Kay E Davies
Allele Type	Targeted (Null/Knockout)
Allele Synonym(s)	Utr^-
Gene Symbol and Name	Utrn, utrophin
Gene Synonym(s)
Strain of Origin	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Chromosome	10
Molecular Note	Insertion of a neomycin cassette into exon 7. No protein was detected in extracts derived from kidney, lung or brain of homozygous mice as assayed by Western blot analysis.
Mutations Made By	Kay Davies, University of Oxford

Disease/Phenotype

Disease Terms

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).

Duchenne muscular dystrophy

Research Areas By Phenotype

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

Genotype: Dmd^mdx related

Neurobiology Research
- Muscular Dystrophy
  - Duchenne type
Sensorineural Research
- Cataracts
Mouse/Human Gene Homologs
- muscular dystrophy (Duchenne and Becker)
Cell Biology Research
- Signal Transduction

Neurobiology Research
- Muscular Dystrophy
  - Duchenne type

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Dmd^mdx/Dmd^mdx Utrn^tm1Ked/Utrn^tm1Ked
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA

muscle phenotype

abnormal skeletal muscle fiber size

skeletal muscle necrosis

abnormal skeletal muscle fiber morphology
- muscle fibers are irregularly shaped and sized, many with centralized nuclei and some lymphocyte infiltration
- some fibers contain fat or appear to be replaced by adipose cells

centrally nucleated skeletal muscle fibers

skeletal muscle interstitial fibrosis

progressive muscle weakness

dystrophic muscle
- muscular dystrophy begins at 6 days of age and becomes severe by 10 weeks of age, earlier than in single Dmd mutants

nervous system phenotype

abnormal neuromuscular synapse morphology
- about 40% decrease in acetylcholine receptors at the synapse
- postsynaptic endplate regions exhibit a virtual absence of junctional folding at the postsynaptic membrane

respiratory system phenotype

abnormal breathing pattern
- exhibit abnormal breathing by 4 to 6 weeks of age

skeleton phenotype

kyphosis

behavior/neurological phenotype

hypoactivity
- decrease in mobility and abnormal field behavior by 4 to 6 weeks of age

abnormal gait
- waddling gait

abnormal posture
- slack posture by 4 to 6 weeks of age

cellular phenotype

skeletal muscle necrosis

growth/size/body region phenotype

weight loss

limbs/digits/tail phenotype

abnormal hindlimb morphology
- abnormally postured hindlimbs with joint contractures

mortality/aging

premature death
- all succumb to premature death by 20 weeks of age

References

Deconinck AE; Potter AC; Tinsley JM; Wood SJ; Vater R; Young C; Metzinger L; Vincent A; Slater CR; Davies KE. 1997. Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice. J Cell Biol 136(4):883-94PubMed: 9049253 MGI: J:70949
Moore K; Bulfield G. 1981. Research News (Dmd) Mouse News Lett 64:61MGI: J:28684

Additional - Dmd^mdx related

Additional - Utrn^tm1Ked related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- End Point Analysis:DmdEnd Point
- Probe:Utrn-PROBE
- Standard PCR:Utrnalternate1
- Genotyping resources and troubleshooting
Breeding Considerations

Female mice that are homozygous for the Utrn^tm1Ked allele and the Dmd^mdx allele, and male mice that are homozygous for the Utrn^tm1Ked allele and hemizygous for the Dmd^mdx allele, exhibit clinical symptoms as early as 4 weeks of age and die by 20 weeks of age. When maintaining a live colony, female mice heterozygous for the Utrn^tm1Ked allele and the homozygous for the Dmd^mdx allele can be crossed to male mice hemizygous for the Dmd^mdx allele.
- Additional Breeding and Husbandry Support
Citation
When using the D2 utr/mdx mouse strain in a publication, please cite the originating article(s) and include JAX stock #022506 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Heterozygous or wildtype for Utrn<tm1Ked>, X linked, Heterozygous females and wildtype males for Dmd<mdx>, 2 pair minimum

Related Products and Services

Frozen Mouse Embryo	D2.Cg-Utrn<tm1Ked> Dmd<mdx>/J	$2595.00
Frozen Mouse Embryo	D2.Cg-Utrn<tm1Ked> Dmd<mdx>/J	$2595.00
Frozen Mouse Embryo	D2.Cg-Utrn<tm1Ked> Dmd<mdx>/J	$3373.50
Frozen Mouse Embryo	D2.Cg-Utrn<tm1Ked> Dmd<mdx>/J	$3373.50

Payment Terms and Conditions

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.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:D2 utr/mdx

Donating Investigator

Genetic overview

Research Applications

Base Price

Development

Control Suggestions

Approximate Controls

Additional Information

Selected References

Dmdmdx

Allele Symbol: Dmdmdx

Utrntm1Ked

Allele Symbol: Utrntm1Ked

Disease Terms

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).

Research Areas By Phenotype

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

Genotype: Dmdmdx related

Mammalian Phenotype Terms by Genotype

Genotype: Dmdmdx/Dmdmdx Utrntm1Ked/Utrntm1Kedinvolves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA

muscle phenotype

nervous system phenotype

respiratory system phenotype

skeleton phenotype

behavior/neurological phenotype

cellular phenotype

growth/size/body region phenotype

limbs/digits/tail phenotype

mortality/aging

References

Additional - Dmdmdx related

Additional - Utrntm1Ked related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Dmd^mdx

Allele Symbol: Dmd^mdx

Utrn^tm1Ked

Allele Symbol: Utrn^tm1Ked

Genotype: Dmd^mdx related

Genotype: Dmd^mdx/Dmd^mdx Utrn^tm1Ked/Utrn^tm1Ked
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn * DBA

Additional - Dmd^mdx related

Additional - Utrn^tm1Ked related