{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T20:08:50Z","timestamp":1793390930663,"version":"4.5.0"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,9,30]],"date-time":"2019-09-30T00:00:00Z","timestamp":1569801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Two clinical forms of ichthyosis in cattle have been reported, ichthyosis fetalis and congenital ichthyosis. Ichthyosis poses animal welfare and economic issues and the more severe form, ichthyosis fetalis, is lethal. A Shorthorn calf with ichthyosis fetalis was investigated and a likely causal missense\u00a0variant on chromosome 2 in the <jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12<\/jats:italic> gene (<jats:styled-content style=\"fixed-case\">NM<\/jats:styled-content>_001191294.2:c.6776T&gt;C) was identified by whole genome sequencing. Mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12<\/jats:italic> gene are known to cause ichthyosis fetalis in cattle and Harlequin ichthyosis in humans. Sanger sequencing of the affected calf and the dam confirmed the variant was homozygous in the affected calf and heterozygous in the dam. Further genotyping of 130 Shorthorn animals from the same property revealed an estimated\u00a0allele frequency of 3.8%. The presented findings enable genetic testing for breeding and diagnostics.<\/jats:p>","DOI":"10.1111\/age.12856","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T05:08:23Z","timestamp":1569906503000},"page":"749-752","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["An <i><scp>ABCA<\/scp>12<\/i> missense variant in a Shorthorn calf with ichthyosis fetalis"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2317-2916","authenticated-orcid":false,"given":"S. A.","family":"Woolley","sequence":"first","affiliation":[{"name":"Faculty of Science Sydney School of Veterinary Science University of Sydney Camden 2570 NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. L. M.","family":"Eager","sequence":"additional","affiliation":[{"name":"NSW Department of Primary Industries Elizabeth Macarthur Agricultural Institute Menangle 2568 NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. M.","family":"H\u00e4fliger","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty Institute of Genetics University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty Institute of Genetics University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9773-522X","authenticated-orcid":false,"given":"C.","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty Institute of Genetics University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"T.","family":"Leeb","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty Institute of Genetics University of Bern Bern 3001 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6959-9398","authenticated-orcid":false,"given":"B. A.","family":"O'Rourke","sequence":"additional","affiliation":[{"name":"NSW Department of Primary Industries Elizabeth Macarthur Agricultural Institute Menangle 2568 NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5520-6597","authenticated-orcid":false,"given":"I.","family":"Tammen","sequence":"additional","affiliation":[{"name":"Faculty of Science Sydney School of Veterinary Science University of Sydney Camden 2570 NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,30]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.142.7.914"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2013.08.009"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI24834"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700295"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.96"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr245"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.1995.tb06178.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-294X.2007.03089.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/429844"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.214"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg235"},{"key":"e_1_2_4_16_1","first-page":"1","article-title":"Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis","volume":"2018","author":"Loo B.K.G.","year":"2018","journal-title":"BMJ Case Reports"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1177\/1040638717724186"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000192"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700455"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12861"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161465"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12856","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/age.12856","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T14:59:54Z","timestamp":1694185194000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,30]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1111\/age.12856"],"URL":"https:\/\/doi.org\/10.1111\/age.12856","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9,30]]},"assertion":[{"value":"2019-08-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}