{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:51:45Z","timestamp":1747183905272,"version":"3.40.5"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100007419","name":"National Institute of Agrobiological Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007419","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A male mouse exhibiting bidirectional circling behavior was identified in a Y\u2010chromosome consomic strain known as DH\u2010Chr Y<jats:sup>RR<\/jats:sup>. The putative mutation responsible for the circling behavior was inherited in an autosomal recessive manner and was termed <jats:italic>circ<\/jats:italic>. To identify its causative gene, we performed exome sequencing; of the 34 candidates discovered, we found a novel nonsynonymous single nucleotide variation in LIM homeobox transcription factor 1 alpha (<jats:italic>Lmx1a<\/jats:italic>) (c.394G\u2009&gt;\u2009C, p.Gly132Arg). The genetic linkage between <jats:italic>Lmx1a<\/jats:italic> and <jats:italic>circ<\/jats:italic> was confirmed in (\u2640BALB\/cA\u2009\u00d7\u2009\u2642DH\u2010Chr Y<jats:sup>RR<\/jats:sup>\u2010<jats:italic>circ<\/jats:italic>\/<jats:italic>circ<\/jats:italic>) F<jats:sub>2<\/jats:sub> and (\u2640C57BL\/6J\u2009\u00d7\u2009\u2642DH\u2010Chr Y<jats:sup>RR<\/jats:sup>\u2010<jats:italic>circ<\/jats:italic>\/<jats:italic>circ<\/jats:italic>) F<jats:sub>2<\/jats:sub> mice. The <jats:italic>Lmx1a<\/jats:italic> mutation led to many abnormalities that affected growth, pigmentation, reproduction, and cerebellar morphology. We showed that (\u2640BALB\/cA\u2009\u00d7\u2009\u2642DH\u2010Chr Y<jats:sup>RR<\/jats:sup>\u2010<jats:italic>circ<\/jats:italic>\/<jats:italic>circ<\/jats:italic>) F<jats:sub>2<\/jats:sub>\u2010<jats:italic>circ<\/jats:italic>\/<jats:italic>circ<\/jats:italic> mice demonstrated significantly lower body mass than the F<jats:sub>2<\/jats:sub>\u2010+\/? mice. Unlike the F<jats:sub>2<\/jats:sub>\u2010+\/? mice, few (\u2640C57BL\/6J\u2009\u00d7\u2009\u2642DH\u2010Chr Y<jats:sup>RR<\/jats:sup>\u2010<jats:italic>circ<\/jats:italic>\/<jats:italic>circ<\/jats:italic>) F<jats:sub>2<\/jats:sub>\u2010<jats:italic>circ<\/jats:italic>\/<jats:italic>circ<\/jats:italic> mice exhibited a belly spot. The <jats:italic>circ<\/jats:italic>\/<jats:italic>circ<\/jats:italic> females were also invariably sterile, probably because of an underdeveloped uterus. Moreover, the <jats:italic>circ<\/jats:italic>\/<jats:italic>circ<\/jats:italic> mice presented fewer cerebellar granule cells with lower density than the F<jats:sub>2<\/jats:sub>\u2010+\/? mice. Although non\u2010complementation between <jats:italic>circ<\/jats:italic> and the known <jats:italic>Lmx1a<\/jats:italic> mutant alleles remains unconfirmed, the coisogenic nature of <jats:italic>circ<\/jats:italic> strongly suggests that it is a novel variant of <jats:italic>Lmx1a<\/jats:italic>, previously known as <jats:italic>dreher<\/jats:italic>. Therefore, we have assigned the gene symbol <jats:italic>Lmx1a<\/jats:italic><jats:sup><jats:italic>dr\u2010circ<\/jats:italic><\/jats:sup> to <jats:italic>circ<\/jats:italic>. In addition to <jats:italic>Lmx1a<\/jats:italic><jats:sup><jats:italic>dr\u2010J<\/jats:italic><\/jats:sup> and <jats:italic>Lmx1a<\/jats:italic><jats:sup><jats:italic>dr\u2010kjmi<\/jats:italic><\/jats:sup>, <jats:italic>Lmx1a<\/jats:italic><jats:sup><jats:italic>dr\u2010circ<\/jats:italic><\/jats:sup> is the third allele that causes a missense mutation within LIM domains. Identification of missense mutations is necessary to specify the critical residues for abrogating the in vivo functions of LMX1A.<\/jats:p>","DOI":"10.1111\/cga.12450","type":"journal-article","created":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T04:19:58Z","timestamp":1637727598000},"page":"18-26","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a novel mutant allele of <scp>LIM<\/scp> homeobox transcription factor 1 alpha (<i>dreher<\/i>) in mice"],"prefix":"10.1111","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0659-2257","authenticated-orcid":false,"given":"Jun\u2010ichi","family":"Suto","sequence":"first","affiliation":[{"name":"Institute of Agrobiological Sciences National Agriculture and Food Research Organization (NARO)  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-011-9353-3"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0051065"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-006-0033-7"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/35001573"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-92125-9"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btg112"},{"key":"e_1_2_7_8_1","first-page":"28","article-title":"A mutation at the dreher locus, dr2J","volume":"75","author":"Washburn L","year":"1986","journal-title":"Mouse News Lett"},{"key":"e_1_2_7_9_1","unstructured":"Ward\u2010BaileyP WalcottS GagnonL HarrisB JohnsonKR.Two new spontaneous mutations in the Lmx1a gene dreher 10 Jackson and dreher 11 Jackson. MGI Direct Data Submission.2008."},{"key":"e_1_2_7_10_1","first-page":"1030","article-title":"Remutations at the Jackson Laboratory","volume":"93","author":"Sweet HD","year":"1995","journal-title":"Mouse Genome"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12450","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cga.12450","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12450","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T11:45:35Z","timestamp":1693223135000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12450"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1111\/cga.12450"],"URL":"https:\/\/doi.org\/10.1111\/cga.12450","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"type":"print","value":"0914-3505"},{"type":"electronic","value":"1741-4520"}],"subject":[],"published":{"date-parts":[[2021,12]]},"assertion":[{"value":"2020-10-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}