PXD057310

PXD057310 is an original dataset announced via ProteomeXchange.

Title	Phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3
Description	Mutations in COL6A3 lead to collagen VI-related myopathies due to COL6A3 loss. Therefore, studying the consequence of Col6a3 deregulated expression in mouse models is relevant, but the Col6a3 knockout mouse models currently available through a public repository does not entirely abolish COL6A3 protein expression. Here, we present the validation and phenotypic characterization of a novel CRISPR-based knockout mouse model targeting Col6a3 exon 3 (Col6a3 d3/d3). In this mouse model, Col6a3 mRNA is still expressed at a similar level to that of wild-type littermates, although the expected protein is undetectable. Histological analysis of Col6a3 d3/d3 quadriceps revealed an abnormally high frequency of muscle cells with a centralized nuclei, consistent with a muscular dystrophy phenotype. Interestingly, Col6a3 d3/d3 mice are smaller in size with their fat, muscle, and bone to body ratios kept proportional compared to wild type littermates. Thus, we developed a novel Col6a3 knockout mouse model that could be further used to study Col6a3 biology and collagen VI-associated diseases.
HostingRepository	PRIDE
AnnounceDate	2025-12-08
AnnouncementXML	Submission_2025-12-07_18:28:04.207.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Dominique Levesque
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090;
ModificationList	L-methionine removal; acetylated residue; iodoacetamide derivatized residue
Instrument	timsTOF Pro

Revision	Datetime	Status	ChangeLog Entry
0	2024-10-29 13:44:28	ID requested
⏵ 1	2025-12-07 18:28:05	announced

10.1002/ame2.70063;

ElChoueiry M, Sidhu H, L, é, vesque M, L, é, vesque D, Jacques JF, Sarrhini O, Beaudoin JF, Caron M, Gaudette B, Lecomte R, Roucou X, Boisvert FM, Brosseau JP, Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3. Animal Model Exp Med, 8(10):1824-1835(2025) [pubmed]

submitter keyword: mass spectrometry, muscular dystrophy,Col6a3, exon 3, phenotype

Jean-Philippe Brosseau
contact affiliation	Department of Biochemistry and Functional Genomic, Université de Sherbrooke, QC, Canada
contact email	Jean-Philippe.Brosseau@USherbrooke.ca
lab head
Dominique Levesque
contact affiliation	University of Sherbrooke, FM Boisvert lab
contact email	dominique.levesque@usherbrooke.ca
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2025/12/PXD057310

PRIDE project URI

• PRIDE
  1. PXD057310
     1. Label: PRIDE project
     2. Name: Phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3