{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:21:38Z","timestamp":1787066498582,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T00:00:00Z","timestamp":1512086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K01\u2010OD019912"],"award-info":[{"award-number":["K01\u2010OD019912"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reprod Domestic Animals"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>Contents<\/jats:title>\n                  <jats:p>\n                    Persistent M\u00fcllerian duct syndrome (\n                    <jats:styled-content style=\"fixed-case\">PMDS<\/jats:styled-content>\n                    ) is a sex\u2010limited disorder in which males develop portions of the female reproductive tract. Important consequences of\n                    <jats:styled-content style=\"fixed-case\">PMDS<\/jats:styled-content>\n                    are cryptorchidism and its sequelae of infertility and increased risk of testicular cancer. Anti\u2010M\u00fcllerian hormone (\n                    <jats:styled-content style=\"fixed-case\">AMH<\/jats:styled-content>\n                    ) and its receptor (\n                    <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                    2) induce the regression of the M\u00fcllerian ducts in male embryos. In Miniature Schnauzer dogs, the genetic basis has been identified as an autosomal recessive nonsense mutation in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    , but the allele frequency of the mutation is unknown. Thus, the primary objective of this study was to estimate the prevalence of the\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutation in North American Miniature Schnauzers, in order to ascertain the value of genetic testing in this breed. An additional objective was to determine whether mutations in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMH<\/jats:styled-content>\n                    <\/jats:italic>\n                    or\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    were responsible for\n                    <jats:styled-content style=\"fixed-case\">PMDS<\/jats:styled-content>\n                    in a Belgian Malinois; this would aid development of a genetic test for the Belgian Malinois breed. Genomic\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    from 216 Miniature Schnauzers (including one known\n                    <jats:styled-content style=\"fixed-case\">PMDS<\/jats:styled-content>\n                    case) was genotyped for the\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutation, and\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    from a single\n                    <jats:styled-content style=\"fixed-case\">PMDS<\/jats:styled-content>\n                    \u2010affected Belgian Malinois was sequenced for all coding exons of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMH<\/jats:styled-content>\n                    <\/jats:italic>\n                    and\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    . The Miniature Schnauzer cohort had an\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutation allele frequency of 0.16 and a carrier genotypic frequency of 0.27. The genetic basis for\n                    <jats:styled-content style=\"fixed-case\">PMDS<\/jats:styled-content>\n                    in the Belgian Malinois was not determined, as no coding or splicing mutations were identified in either\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMH<\/jats:styled-content>\n                    <\/jats:italic>\n                    or\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    . These findings support a benefit to\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AMHR<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutation testing Miniature Schnauzers used for breeding or with cryptorchidism.\n                  <\/jats:p>","DOI":"10.1111\/rda.13116","type":"journal-article","created":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T13:18:13Z","timestamp":1512134293000},"page":"371-376","source":"Crossref","is-referenced-by-count":15,"title":["Prevalence of the\n                    <i>\n                      <scp>AMHR<\/scp>\n                      2\n                    <\/i>\n                    mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent M\u00fcllerian duct syndrome"],"prefix":"10.1111","volume":"53","author":[{"given":"MM","family":"Smit","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences of Companion Animals Faculty of Veterinary Medicine Utrecht University Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3213-7883","authenticated-orcid":false,"given":"KJ","family":"Ekenstedt","sequence":"additional","affiliation":[{"name":"Department of Veterinary and Biomedical Sciences College of Veterinary Medicine University of Minnesota St. Paul MN USA"},{"name":"Department of Basic Medical Sciences College of Veterinary Medicine Purdue University West Lafayette IN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KM","family":"Minor","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences College of Veterinary Medicine University of Minnesota St. Paul MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CK","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences College of Veterinary Medicine Purdue University West Lafayette IN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PAJ","family":"Leegwater","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences of Companion Animals Faculty of Veterinary Medicine Utrecht University Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7339-2354","authenticated-orcid":false,"given":"E","family":"Furrow","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences College of Veterinary Medicine University of Minnesota St. Paul MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcpa.2011.03.011"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"821","DOI":"10.2460\/javma.1976.169.08.821","article-title":"Male pseudohermaphroditism, cryptorchism, and sertoli cell neoplasia in three miniature schnauzers","volume":"169","author":"Brown T. 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