ArticleAnimal models and experimental medicine2025
Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.
Article in Animal models and experimental medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.Animal models and experimental medicine · 2025Article
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13 authors.
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Abstract
backgroundMost mutations in the COL6A3 gene lead to collagen VI-related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein. Therefore, studying the consequence of knocking out the Col6a3 gene in mouse models is relevant, but the Col6a3 mouse models reported so far do not entirely abolish COL6A3 protein expression.
methodsHere, we present the development, validation and preliminary phenotypic characterization of a novel CRISPR-based knockout mouse model targeting Col6a3 exon 3 (Col6a3
resultsIn this mouse model, Col6a3 mRNA is still expressed at a similar level to wild-type littermates, although the expected protein is undetectable by mass spectrometry. Histological analysis of Col6a3
conclusionsIn summary, we performed the validation and preliminary phenotypic characterization of a novel Col6a3 knockout mouse model that could be further characterized and used to study COL6A3 biology and model collagen VI-associated diseases.
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