This Utrn targeted mutation mouse strain may be useful in studies of neuromuscular junctions, and hereditary neuropathies, specifically Duchenne Type Muscular Dystrophy.
Kay Davies, University of Oxford
Repository Colony
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Utrn | utrophin |
Mice that are homozygous for the targeted mutation are viable and fertile. 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 a Stock background 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 a Stock background exhibit abnormal Schwann cell compartments and reduced internodal length.
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.
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. At The Jackson Laboratory, the mice were crossed to B6D2F1/J mice (Stock No. 100006) at least once, and then backcrossed to C57BL/ScSn10 (Stock No. 000476) using a marker assisted protocol.
Allele Name | targeted mutation 1, Kay E Davies |
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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 |
When maintaining a live colony, these mice can be bred as homozygotes.
When using the B10ScSn.utrn - mouse strain in a publication, please cite the originating article(s) and include JAX stock #018802 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or widtype for Cg-Utrn<tm1Ked> |
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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.
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