{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T06:06:14Z","timestamp":1764309974324,"version":"3.46.0"},"reference-count":29,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,8,12]],"date-time":"2025-08-12T00:00:00Z","timestamp":1754956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec - Sant\u00e9","doi-asserted-by":"publisher","award":["348951"],"award-info":[{"award-number":["348951"]}],"id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Anim Models and Exp Med"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Most mutations in the\n                      <jats:italic>COL6A3<\/jats:italic>\n                      gene lead to collagen VI\u2010related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein. Therefore, studying the consequence of knocking out the\n                      <jats:italic>Col6a3<\/jats:italic>\n                      gene in mouse models is relevant, but the\n                      <jats:italic>Col6a3<\/jats:italic>\n                      mouse models reported so far do not entirely abolish COL6A3 protein expression.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Here, we present the development, validation and preliminary phenotypic characterization of a novel CRISPR\u2010based knockout mouse model targeting\n                      <jats:italic>Col6a3<\/jats:italic>\n                      exon 3 (\n                      <jats:italic>Col6a3<\/jats:italic>\n                      <jats:sup>d3\/d3<\/jats:sup>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In this mouse model,\n                      <jats:italic>Col6a3<\/jats:italic>\n                      mRNA is still expressed at a similar level to wild\u2010type littermates, although the expected protein is undetectable by mass spectrometry. Histological analysis of\n                      <jats:italic>Col6a3<\/jats:italic>\n                      <jats:sup>d3\/d3<\/jats:sup>\n                      quadriceps revealed an abnormally high frequency of muscle cells with internally nucleated muscle cells, consistent with a myopathy phenotype. Interestingly,\n                      <jats:italic>Col6a3<\/jats:italic>\n                      <jats:sup>d3\/d3<\/jats:sup>\n                      mice are smaller in size, with their fat, muscle, and bone kept proportional compared to wild\u2010type littermates.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In 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\u2010associated diseases.<\/jats:p>\n                  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