Article

Generation and Characterization of Col6a1 knock-in mice: A Promising Pre-Clinical Model for Collagen VI-Related Dystrophies

2025-03-13

Abstract excerpt

Collagen VI Related Dystrophies (COL6-RD) are congenital muscle diseases, typically inherited as an autosomal dominant trait. A frequent type of mutation 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. Using CRISPR/Cas9, we generated transgenic mice...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 65bd6aa5-0f7f-5879-b729-4eb572fd3f97
DOI: 10.1101/2025.03.11.642560

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Generation and Characterization of Col6a1 knock-in mice: A Promising Pre-Clinical Model for Collagen VI-Related DystrophiesDOI 10.1101/2025.03.11.642560Read

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

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

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.Semantic proximity Read

Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.Semantic proximity Read

A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variantSemantic proximity Read

Knock-in Mouse Model of Hereditary Myopathy with Early Respiratory Failure Carrying the Titin Variant Corresponding to Human p.N31786KSemantic proximity Read

Collagen VI in the Musculoskeletal System.Semantic proximity Read

Collagen type VI regulates TGFβ bioavailability in skeletal muscleSemantic proximity Read

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.Semantic proximity Read

Collagen VI is a conserved pro-fibrotic signal disrupting muscle regeneration across distinct human myopathiesSemantic proximity Read

Zebrafish models of collagen VI-related myopathiesSemantic proximity Read

Mutation Profile of Collagen VI-Related Myopathy in JapanSemantic proximity Read

Generation and Characterization of <i>Col6a1</i> knock-in mice: A Promising Pre-Clinical Model for Collagen VI-Related Dystrophies

Abstract excerpt

Topics

Identifiers and source

Related research