{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T20:29:02Z","timestamp":1783628942505,"version":"3.55.0"},"reference-count":38,"publisher":"National Academy of Sciences","issue":"8","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2000,4,11]]},"abstract":"<jats:p>\n                    The mouse\n                    <jats:italic>p<\/jats:italic>\n                    locus encodes a gene that functions in normal pigmentation. We have characterized a radiation-induced mutant allele of the mouse\n                    <jats:italic>p<\/jats:italic>\n                    locus that is associated with a failure-to-thrive syndrome, in addition to diminished pigmentation. Mice homozygous for this mutant allele,\n                    <jats:italic>p<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>100H<\/jats:italic>\n                    <\/jats:sup>\n                    , show delayed growth and die within 2 wk after birth. We have discovered that the mutant mice develop progressive atrioventricular heart block and significant ultrastructural changes in both cardiac and skeletal muscle cells. These observations are common characteristics described in human myopathies. The karyotype of\n                    <jats:italic>p<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>100H<\/jats:italic>\n                    <\/jats:sup>\n                    chromosomes indicated that the mutation is associated with a chromosome 7 inversion. We demonstrate here that the\n                    <jats:italic>p<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>100H<\/jats:italic>\n                    <\/jats:sup>\n                    chromosomal inversion disrupts both the\n                    <jats:italic>p<\/jats:italic>\n                    gene and the\n                    <jats:italic>Sox6<\/jats:italic>\n                    gene. Normal\n                    <jats:italic>Sox6<\/jats:italic>\n                    gene expression has been examined by Northern blot analysis and was found most abundantly expressed in skeletal muscle in adult mouse tissues, suggesting an involvement of\n                    <jats:italic>Sox6<\/jats:italic>\n                    in muscle maintenance. The\n                    <jats:italic>p<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>100H<\/jats:italic>\n                    <\/jats:sup>\n                    mutant is thus a useful animal model in the elucidation of myopathies at the molecular level.\n                  <\/jats:p>","DOI":"10.1073\/pnas.97.8.4180","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:32:33Z","timestamp":1027679553000},"page":"4180-4185","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":71,"title":["<i>Sox6<\/i>\n                    is a candidate gene for\n                    <i>p<\/i>\n                    <sup>\n                      <i>100H<\/i>\n                    <\/sup>\n                    myopathy, heart block, and sudden neonatal death"],"prefix":"10.1073","volume":"97","author":[{"given":"Nobuko","family":"Hagiwara","sequence":"first","affiliation":[{"name":"Department of Pediatrics, The University of Arizona College of Medicine, Tucson, AZ 85724; and Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxon OX11 0RD, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott E.","family":"Klewer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The University of Arizona College of Medicine, Tucson, AZ 85724; and Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxon OX11 0RD, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo A.","family":"Samson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The University of Arizona College of Medicine, Tucson, AZ 85724; and Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxon OX11 0RD, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Drew T.","family":"Erickson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The University of Arizona College of Medicine, Tucson, AZ 85724; and Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxon OX11 0RD, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary F.","family":"Lyon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The University of Arizona College of Medicine, Tucson, AZ 85724; and Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxon OX11 0RD, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murray H.","family":"Brilliant","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The University of Arizona College of Medicine, Tucson, AZ 85724; and Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxon OX11 0RD, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2000,4,11]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02985370"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00355717"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.15.6968"},{"key":"e_1_3_4_4_2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1093\/oso\/9780198548690.003.0002","volume-title":"Genetic Variants and Strains of the Laboratory Mouse","author":"Doolittle D P","year":"1996","unstructured":"D P Doolittle, M T Davisson, J N Guidi, M C Green Genetic Variants and Strains of the Laboratory Mouse, eds M F Lyon, S Rastan, S D M Brown (Oxford Univ. 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