{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T21:16:26Z","timestamp":1793049386253,"version":"4.5.0"},"reference-count":29,"publisher":"National Academy of Sciences","issue":"15","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1998,7,21]]},"abstract":"\n The murine paired box-containing gene\n Pax1<\/jats:italic>\n is required for normal development of the vertebral column, the sternum, and the scapula. Previous studies have shown that three natural\n Pax1<\/jats:italic>\n mouse mutants, the\n undulated<\/jats:italic>\n alleles, exhibit phenotypes of different severity in these skeletal elements. Nevertheless, these analyses have not clarified whether the semidominant\n Undulated short-tail<\/jats:italic>\n (\n Un<\/jats:italic>\n \n s<\/jats:italic>\n <\/jats:sup>\n ) mutation, in which the complete\n Pax1<\/jats:italic>\n locus is deleted, represents a null allele. Moreover, the analyses of the classical\n undulated<\/jats:italic>\n mutants did not allow a conclusion with respect to haploinsufficiency of\n Pax1<\/jats:italic>\n . To address both questions we have created a\n Pax1<\/jats:italic>\n null allele in mice by gene targeting. Surprisingly, the phenotype of this defined mutation exhibits clear differences to that of\n Un<\/jats:italic>\n \n s<\/jats:italic>\n <\/jats:sup>\n . This result strongly indicates the contribution of additional gene(s) to the\n Un<\/jats:italic>\n \n s<\/jats:italic>\n <\/jats:sup>\n mutant phenotype. Furthermore, the phenotype of mice heterozygous for the null allele demonstrates that\n Pax1<\/jats:italic>\n is haploinsufficient in some though not all skeletal elements which express\n Pax1<\/jats:italic>\n during embryonic development.\n <\/jats:p>","DOI":"10.1073\/pnas.95.15.8692","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:42:40Z","timestamp":1027680160000},"page":"8692-8697","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":141,"title":["Targeted disruption of\n Pax1<\/i>\n defines its null phenotype and proves haploinsufficiency"],"prefix":"10.1073","volume":"95","author":[{"given":"Bettina","family":"Wilm","sequence":"first","affiliation":[{"name":"GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, 85764 Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgar","family":"Dahl","sequence":"additional","affiliation":[{"name":"GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, 85764 Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Peters","sequence":"additional","affiliation":[{"name":"GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, 85764 Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudi","family":"Balling","sequence":"additional","affiliation":[{"name":"GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, 85764 Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Imai","sequence":"additional","affiliation":[{"name":"GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, 85764 Neuherberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1998,7,21]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90151-4"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00360584"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(86)90818-4"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.5.4.594"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.9.2709"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.123.1.179"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.16.2066"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/bies.950190905"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90577-6"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.120.5.1109"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.1.23"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.120.10.2773"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/hdy.1947.10"},{"key":"e_1_3_2_14_2","first-page":"43","volume":"52","author":"Blandova Z K","year":"1975","unstructured":"Z K Blandova, I K Egorov Mouse News Lett 52, 43 (1975).","journal-title":"Mouse News Lett"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a110091"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90039-6"},{"key":"e_1_3_2_17_2","first-page":"132","volume-title":"Postimplantation Development in the Mouse","author":"Balling R","year":"1992","unstructured":"R Balling, C F Lau, S Dietrich, J Wallin, P Gruss Postimplantation Development in the Mouse (Wiley, Chichester, U.K.), pp. 132\u2013143 (1992)."},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90434-Z"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1995.1047"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02986800"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02981536"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.18.8424"},{"key":"e_1_3_2_23_2","first-page":"33","volume-title":"Gene Targeting: A Practical Approach","author":"Wurst W","year":"1993","unstructured":"W Wurst, A L Joyner Gene Targeting: A Practical Approach, ed A L Joyner (Oxford Univ. 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(1998) Genes Dev. in press."}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.95.15.8692","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T16:28:27Z","timestamp":1649867307000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.95.15.8692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,7,21]]},"references-count":29,"journal-issue":{"issue":"15","published-print":{"date-parts":[[1998,7,21]]}},"alternative-id":["10.1073\/pnas.95.15.8692"],"URL":"https:\/\/doi.org\/10.1073\/pnas.95.15.8692","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,7,21]]},"assertion":[{"value":"1998-04-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1998-07-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}