D2.Cg-Utrn^tm1Ked Dmd^mdx/J

Stock number: 022506
Product name: D2 utr/mdx
Research areas: Cell Biology Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

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

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.

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
Marker synonyms: DMDL; DRP; DRP1; G-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.

Allele

Symbol: Dmd^mdx
Name: X linked muscular dystrophy
MGI accession ID: MGI:1856328
Generation method: Spontaneous
Synonyms: mdx; pke; pyruvate kinase expression
Marker symbol: Dmd
Marker name: dystrophin, muscular dystrophy
Marker synonyms: BMD; CMD3B; DNADMD1; Dp427; Dp71; Duchenne muscular dystrophy; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; dys; mdx; MRX85; pke; X-linked muscular dystrophy
Chromosome: X
Strain of origin: C57BL/10ScSn
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.