This Utrn targeted mutation mouse strain may be useful in studies of neuromuscular junctions, and hereditary neuropathies, specifically Duchenne Type Muscular Dystrophy.
IMR Colony, The Jackson Laboratory
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 Dmdmdx allele (see Stock No. 001801) the resulting double mutant mice exhibit a more severe phenotype than single Dmdmdx 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 Dmdmdx-3Cv allele (see Stock No. 002377), the resulting double mutant mice develop skeletal muscle abnormalities similar to the Dmdmdx, Utrntm1Ked 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.
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.
Currently there are no related genes or alleles for this strain.
When maintaining a live colony, these mice can be bred as homozygotes.
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Utrn<tm1Ked> |
Frozen Mouse Embryo | D2.129(B6)-Utrn<tm1Ked>/J | $2595.00 |
Frozen Mouse Embryo | D2.129(B6)-Utrn<tm1Ked>/J | $2595.00 |
Frozen Mouse Embryo | D2.129(B6)-Utrn<tm1Ked>/J | $3373.50 |
Frozen Mouse Embryo | D2.129(B6)-Utrn<tm1Ked>/J | $3373.50 |
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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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