B10ScSn.129(Cg)-Utrn^tm1Ked/J

Stock number: 018802
Product name: B10ScSn.utrn -
Research areas: Neurobiology Research, Research Tools

Description

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

Detailed description

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.

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. 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

Symbol: Utrn^tm1Ked
Name: targeted mutation 1, Kay E Davies
MGI accession ID: MGI:2148589
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: Utr^-
Marker symbol: Utrn
Marker name: utrophin
Chromosome: 10
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
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.