{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T09:34:55Z","timestamp":1779183295032,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,5,25]],"date-time":"2015-05-25T00:00:00Z","timestamp":1432512000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001296","name":"PKD Foundation","doi-asserted-by":"publisher","award":["02YI08a"],"award-info":[{"award-number":["02YI08a"]}],"id":[{"id":"10.13039\/100001296","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008321","name":"Pennsylvania State University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008321","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:styled-content>Background:<\/jats:styled-content> Cilia are important for Hedgehog signaling in vertebrates and many genes that encode proteins involved in ciliogenesis have been studied for their roles in embryonic development. Null mutations in many of these genes cause early embryonic lethality, hence an understanding of their roles in postnatal development is limited. <jats:styled-content>Results:<\/jats:styled-content> The <jats:italic>Inturned<\/jats:italic> (<jats:italic>Intu<\/jats:italic>) gene is required for ciliogenesis and here we report a recessive hypomorphic mutation, resulting in substitution of a conserved hydrophobic residue (I813N) near the C\u2010terminus, that sheds light on later functions of Intu. Mice homozygous for this <jats:italic>Double\u2010thumb<\/jats:italic> (<jats:italic>Intu<jats:sup>Dtm<\/jats:sup><\/jats:italic>) allele exhibit polydactyly, retarded growth, and reduced survival. There is a moderate loss of cilia in <jats:italic>Intu<jats:sup>Dtm\/Dtm<\/jats:sup><\/jats:italic> mutants, and Intu<jats:sup>I813N<\/jats:sup> exhibits compromised ability to increase ciliogenesis in cultured <jats:italic>Intu<\/jats:italic> null mutant cells. <jats:italic>Intu<jats:sup>Dtm<\/jats:sup><\/jats:italic> mutants show rib defects and delay of endochondral ossification in long bones, digits, vertebrae, and the sternum. These skeletal defects correlate with a decrease in Hh signaling. However, patterning of the neural tube and planar cell polarity appear to be normal. <jats:styled-content>Conclusions:<\/jats:styled-content> This hypomorphic <jats:italic>Intu<\/jats:italic> allele highlights an important role of Intu in mouse skeletal development. <jats:italic>Developmental Dynamics 244:736\u2013747, 2015<\/jats:italic>. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/dvdy.24272","type":"journal-article","created":{"date-parts":[[2015,3,13]],"date-time":"2015-03-13T01:08:42Z","timestamp":1426208922000},"page":"736-747","source":"Crossref","is-referenced-by-count":18,"title":["A hypomorphic allele reveals an important role of <i>inturned<\/i> in mouse skeletal development"],"prefix":"10.1002","volume":"244","author":[{"given":"Rachel","family":"Chang","sequence":"first","affiliation":[{"name":"Department of Biology, Eberly College of Science The Pennsylvania State University University Park  Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliette R.","family":"Petersen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee A.","family":"Niswander","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aimin","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Biology, Eberly College of Science The Pennsylvania State University University Park  Pennsylvania"},{"name":"Center for Cellular Dynamics, Huck Institute of the Life Sciences The Pennsylvania State University University Park  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