Overview

Also Known As:D2 utrn -

This Utrn targeted mutation mouse strain may be useful in studies of neuromuscular junctions, and hereditary neuropathies, specifically Duchenne Type Muscular Dystrophy.

Donating Investigator

IMR Colony, The Jackson Laboratory

Genetic overview

Genetic Background	Generation

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Research Applications

Research Tools
Neurobiology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by Western blot analysis of kidney, lung and brain tissues. Levels of transcript are significantly reduced, as detected by RNase protection assay. Neuromuscular junctions from homozygotes lack extrasynaptic nerve sprouts, exhibit reduced postsynaptic membrane folding and fewer (approximately 40% reduction) acetylcholine receptors. The amplitude of miniature endplate currents (in extensor digitorum longus muscle) is reduced by 20%. Homozygotes exhibit abnormal Schwann cell compartments and reduced internodal length.

When bred with mice carrying the Dmd^mdx allele (see Stock No. 001801) the resulting double mutant mice exhibit a more severe phenotype than single Dmd^mdx mutants: earlier onset of muscle dystrophy (degeneration, macrophage infiltration and necrosis), weight loss after weaning, joint contractures, kyphosis, dystrophy of extraocular muscles, abnormal electrocardiograms, infertility and premature death. This double mutant strain is a model for Duchenne Type Muscular Dystrophy.

When bred with mice carrying the Dmd^mdx-3Cv allele (see Stock No. 002377), the resulting double mutant mice develop skeletal muscle abnormalities similar to the Dmd^mdx, Utrn^tm1Ked double mutant, but lack pathology of nonmuscle tissues.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

Development

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, the mice were crossed to B6D2F1/J mice (Stock No. 100006) at least once to establish the colony. The mice were then backcrossed to DBA/2J (Stock No. 000671) for at least 5 generations using a marker assisted protocol.

Control Suggestions

000671 DBA/2J

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

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Genetics

Currently there are no related genes or alleles for this strain.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Research Tools
- Neurobiology Research
Neurobiology Research
- Myelination Defects
- Neurotransmitter Receptor and Synaptic Vesicle Defects
- Neuromuscular defects
- Receptor Defects

Mammalian Phenotype Terms by Genotype

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

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

mammalian phenotype

muscle phenotype
- Normal - no indication of muscle weakness or degeneration of cardiac or skeletal muscle

renal/urinary system phenotype
- Normal - normal kidney and function

respiratory system phenotype
- Normal - no signs of abnormal breathing and the lung appears normal

nervous system phenotype

abnormal miniature endplate potential
- the amplitude of miniature endplate currents is reduced by 20% in the extensor digitorum longus muscle, however other features of neuromuscular transmission are normal

abnormal neuromuscular synapse morphology
- decrease in junctional folding at the postsynaptic membrane
- reduction in number of acetylcholine receptors in each junction

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

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Probe:Utrn-PROBE
- Standard PCR:Utrnalternate1
- Separated PCR:Utrnalternate1
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a live colony, these mice can be bred as homozygotes.
- Additional Breeding and Husbandry Support
Citation
When using the D2 utrn - mouse strain in a publication, please cite the originating article(s) and include JAX stock #016904 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 for Utrn<tm1Ked>

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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

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