{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:47:21Z","timestamp":1791978441097,"version":"4.4.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T00:00:00Z","timestamp":1698105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>MFSD12 functions as a transmembrane protein required for import of cysteine into melanosomes and lysosomes. The <jats:italic>MFSD12<\/jats:italic> locus has been associated with phenotypic variation in skin color across African, Latin American, and East Asian populations. The frequency of a particular <jats:italic>MFSD12<\/jats:italic> coding variant, rs2240751 (MAF\u2009=\u20090.08), has been reported to correlate with solar radiation and occur at highest frequency in Peruvian (PEL MAF\u2009=\u20090.48) and Han Chinese (CHB MAF\u2009=\u20090.40) populations, suggesting it could be causative for associated phenotypic variation in skin color. We have generated a mouse knock\u2010in allele, <jats:italic>Mfsd12<\/jats:italic><jats:sup><jats:italic>Y182H<\/jats:italic><\/jats:sup>, to model the human missense p.Tyr182His human variant. We demonstrate that the variant transcript is stably expressed and that agouti mice homozygote for the variant allele are viable with an altered coat color. This in\u00a0vivo data confirms that the MFSD12 p.Tyr182His variant functions as a hypomorphic allele sufficient to alter mammalian pigmentation.<\/jats:p>","DOI":"10.1111\/pcmr.13144","type":"journal-article","created":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T16:58:06Z","timestamp":1698166686000},"page":"259-264","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color"],"prefix":"10.1111","volume":"37","author":[{"given":"Dawn E.","family":"Watkins\u2010Chow","sequence":"first","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo A.","family":"Incao","sequence":"additional","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecelia","family":"Rivas","sequence":"additional","affiliation":[{"name":"Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gene","family":"Elliott","sequence":"additional","affiliation":[{"name":"Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa J.","family":"Garrett","sequence":"additional","affiliation":[{"name":"Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"Pavan","sequence":"additional","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102937\u2010x"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010018\u201008147\u20100"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aan8433"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab007"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102018\u2010105437"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes10050386"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep44548"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/procel\/pwac034"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010018\u20100100\u20105"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12976"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/ecco\u2010jcc\/jjab060"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines10071615"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010015\u20101559\u20100"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12863\u2010019\u20100765\u20105"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010018\u201007691\u2010z"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010021\u201000991\u20101"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010083118\u2010015230"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00239\u2010019\u201009902\u20107"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2020.08.007"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/522235"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.160"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes10100826"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41388\u2010018\u20100531\u20106"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008\u20105472.CAN\u201020\u20100069"}],"container-title":["Pigment Cell &amp; 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