{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T04:46:30Z","timestamp":1781844390019,"version":"3.54.5"},"reference-count":45,"publisher":"The Company of Biologists","issue":"6","license":[{"start":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T00:00:00Z","timestamp":1599091200000},"content-version":"vor","delay-in-days":460,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["HD036404"],"award-info":[{"award-number":["HD036404"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DK099467"],"award-info":[{"award-number":["DK099467"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>In a screen for organogenesis defects in N-ethyl-N-nitrosourea (ENU)-induced mutant mice, we discovered a line carrying a mutation in Colgalt1 [collagen beta(1-O)galactosyltransferase type 1], which is required for proper galactosylation of hydroxylysine residues in a number of collagens. Colgalt1 mutant embryos have not been previously characterized; here, we show that they exhibit skeletal and muscular defects. Analysis of mutant-derived embryonic fibroblasts reveals that COLGALT1 acts on collagen IV and VI, and, while collagen VI appears stable and its secretion is not affected, collagen IV accumulates inside of cells and within the extracellular matrix, possibly due to instability and increased degradation. We also generated mutant zebrafish that do not express the duplicated orthologs of mammalian Colgalt1. The double-homozygote mutants have muscle defects; they are viable through the larvae stage but do not survive to 10\u2005days post-fertilization. We hypothesize that the Colgalt1 mutant could serve as a model of a human connective tissue disorder and\/or congenital muscular dystrophy or myopathy.<\/jats:p>","DOI":"10.1242\/dmm.037176","type":"journal-article","created":{"date-parts":[[2019,5,17]],"date-time":"2019-05-17T15:09:09Z","timestamp":1558105749000},"source":"Crossref","is-referenced-by-count":32,"title":["Loss of function of <i>Colgalt1<\/i> disrupts collagen post-translational modification and causes musculoskeletal defects"],"prefix":"10.1242","volume":"12","author":[{"given":"Krista A.","family":"Geister","sequence":"first","affiliation":[{"name":"Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"\u00a0 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"98105 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"University of Washington School of Medicine 2 Department of Pediatrics, Division of Genetics , , Seattle, WA 98195 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto Jose","family":"Lopez-Jimenez","sequence":"additional","affiliation":[{"name":"Center for Matrix Biology, Vanderbilt University Medical Center 3 , Nashville, TN 37232 , USA"},{"name":"Vanderbilt University Medical Center 4 Department of Medicine, Division of Nephrology , , Nashville, TN 37232 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Houghtaling","sequence":"additional","affiliation":[{"name":"Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"\u00a0 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"98105 1 , Seattle , \u2008 WA \u2008 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzu-Hua","family":"Ho","sequence":"additional","affiliation":[{"name":"Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"\u00a0 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"98105 1 , Seattle , \u2008 WA \u2008 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Vanacore","sequence":"additional","affiliation":[{"name":"Center for Matrix Biology, Vanderbilt University Medical Center 3 , Nashville, TN 37232 , USA"},{"name":"Vanderbilt University Medical Center 4 Department of Medicine, Division of Nephrology , , Nashville, TN 37232 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0325-8520","authenticated-orcid":false,"given":"David R.","family":"Beier","sequence":"additional","affiliation":[{"name":"Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"\u00a0 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"98105 1 , Seattle , \u2008 WA \u2008 , USA"},{"name":"University of Washington School of Medicine 2 Department of Pediatrics, Division of Genetics , , Seattle, WA 98195 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2019,6,17]]},"reference":[{"key":"2024061302211884400_DMM037176C1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. 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