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Article

Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.

Disease models & mechanisms - 1 Jan 2026

López-Márquez Arístides, Badosa Carmen, Enjuanes-Ruiz Lluis, Hernández-Carabias Patricia, Sánchez-Martín Manuel, Cadot Bruno, Guesmia Zoheir, Georvasilis Ioannis, Balsells Sol, Blanco-Ramos Marcos, Puighermanal Emma, Quintana Albert, Roldán Mònica, Allamand Valérie, Jiménez-Mallebrera Cecilia

Abstract excerpt

Collagen VI related dystrophies (COL6-RD) are congenital muscle diseases, typically inherited as an autosomal dominant trait. A frequent type of pathogenic variant involves glycine substitutions in the triple helical domain of collagen VI alpha chains, exerting a dominant-negative effect on the unaltered protein. Despite this, no prior animal model captured this mutation type. By using CRISPR/Cas9, we generated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41287928
DOI: 10.1242/dmm.052460
PMCID: PMC12869505

Genes

COL6A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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