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Article

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.

Animal models and experimental medicine - 1 Oct 2025

ElChoueiry Michel, Sidhu Harsimran, Lévesque Maude, Lévesque Dominique, Jacques Jean-François, Sarrhini Otman, Beaudoin Jean-François, Caron Molly, Gaudette Brenda, Lecomte Roger, Roucou Xavier, Boisvert François-Michel, Brosseau Jean-Philippe

Abstract excerpt

BACKGROUND: Most 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. METHODS: Here, we present the development, validation and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40792431
DOI: 10.1002/ame2.70063
PMCID: PMC12660495

Genes

COL6A3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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