Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf (tm1Kcam)

Wiktorowicz, Tatiana and Kinter, Jochen and Kobuke, Kazuhiro and Campbell, Kevin P. and Sinnreich, Michael. (2015) Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf (tm1Kcam). Skeletal Muscle, 5. p. 32.

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Official URL: https://edoc.unibas.ch/62452/

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BACKGROUND: Mouse models of dysferlinopathies are valuable tools with which to investigate the pathomechanisms underlying these diseases and to test novel therapeutic strategies. One such mouse model is the Dysf (tm1Kcam) strain, which was generated using a targeting vector to replace a 12-kb region of the dysferlin gene and which features a progressive muscular dystrophy. A prerequisite for successful animal studies using genetic mouse models is an accurate genotyping protocol. Unfortunately, the lack of robustness of currently available genotyping protocols for the Dysf (tm1Kcam) mouse has prevented efficient colony management. Initial attempts to improve the genotyping protocol based on the published genomic structure failed. These difficulties led us to analyze the targeted locus of the dysferlin gene of the Dysf (tm1Kcam) mouse in greater detail. METHODS: In this study we resequenced and analyzed the targeted locus of the Dysf (tm1Kcam) mouse and developed a novel PCR protocol for genotyping. RESULTS: We found that instead of a deletion, the dysferlin locus in the Dysf (tm1Kcam) mouse carries a targeted insertion. This genetic characterization enabled us to establish a reliable method for genotyping of the Dysf (tm1Kcam) mouse, and thus has made efficient colony management possible. CONCLUSION: Our work will make the Dysf (tm1Kcam) mouse model more attractive for animal studies of dysferlinopathies.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Neuromuscular Research (Sinnreich)
UniBasel Contributors:Sinnreich, Michael
Item Type:Article, refereed
Article Subtype:Research Article
ISSN:2044-5040 (Print) 2044-5040 (Linking)
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:24 Nov 2018 13:53
Deposited On:24 Nov 2018 13:53

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