{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:25:47Z","timestamp":1761863147414,"version":"3.40.4"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,11,8]],"date-time":"2012-11-08T00:00:00Z","timestamp":1352332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Although variation in the<jats:italic><jats:styled-content style=\"fixed-case\">KIT<\/jats:styled-content><\/jats:italic>gene is a common cause of white spotting among domesticated animals,<jats:italic><jats:styled-content style=\"fixed-case\">KIT<\/jats:styled-content><\/jats:italic>has not been implicated in the diverse white spotting observed in the dog. Here, we show that a loss\u2010of\u2010function mutation in<jats:italic><jats:styled-content style=\"fixed-case\">KIT<\/jats:styled-content><\/jats:italic>recapitulates the coat color phenotypes observed in other species. A spontaneous white spotting observed in a pedigree of<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>erman<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>hepherd dogs was mapped by linkage analysis to a single locus on<jats:styled-content style=\"fixed-case\">CFA<\/jats:styled-content>13 containing<jats:italic><jats:styled-content style=\"fixed-case\">KIT<\/jats:styled-content><\/jats:italic>(pairwise<jats:styled-content style=\"fixed-case\">LOD<\/jats:styled-content>\u00a0=\u00a015).<jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>sequence analysis identified a novel 1\u2010bp insertion in the second exon that co\u2010segregated with the phenotype. The expected frameshift and resulting premature stop codons predicted a severely truncated c\u2010<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>it receptor with presumably abolished activity. No dogs homozygous for the mutation were recovered from multiple intercrosses (<jats:italic>P<\/jats:italic>\u00a0=\u00a00.01), suggesting the mutation is recessively embryonic lethal. These observations are consistent with the effects of null alleles of<jats:italic><jats:styled-content style=\"fixed-case\">KIT<\/jats:styled-content><\/jats:italic>in other species.<\/jats:p>","DOI":"10.1111\/age.12006","type":"journal-article","created":{"date-parts":[[2012,11,8]],"date-time":"2012-11-08T09:06:20Z","timestamp":1352365580000},"page":"305-310","source":"Crossref","is-referenced-by-count":31,"title":["A<i>de novo<\/i>mutation in<i><scp>KIT<\/scp><\/i>causes white spotting in a subpopulation of<scp>G<\/scp>erman<scp>S<\/scp>hepherd dogs"],"prefix":"10.1111","volume":"44","author":[{"given":"A. K.","family":"Wong","sequence":"first","affiliation":[{"name":"Veterinary Genetics Laboratory University of California Davis CA 95616 USA"},{"name":"Department of Computer Science Princeton University 35 Olden St Princeton NJ 08540 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. L.","family":"Ruhe","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory University of California Davis CA 95616 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. R.","family":"Robertson","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory University of California Davis CA 95616 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. R.","family":"Loew","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Cornell University Ithaca NY 14853 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. C.","family":"Williams","sequence":"additional","affiliation":[{"name":"William R. Pritchard Veterinary Medical Teaching Hospital, University of California Davis CA 95616 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. W.","family":"Neff","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory University of California Davis CA 95616 USA"},{"name":"Van Andel Research Institute Grand Rapids MI 49503 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,11,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.9.5759"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-005-2472-y"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2052.2005.01389.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1093\/genetics\/22.1.14","article-title":"Studies on spotting patterns I. 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