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. 2019 Oct 8;5:48. doi: 10.1038/s41421-019-0117-7

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a An 11-day-old mutant exhibits a significant dilution of coat color compared with its littermate control. b The mutant exhibits two-end diluted brown coat color with pink eyes. c The pedigree of the mutant family and d mutant G3 animals exhibiting an autosomal recessive mode of inheritance. WT: wild-type; Mut: mutant. e A significant linkage peak between 46 Mb and 66 Mb on chromosome 15 (LOD > 2) containing 30 annotated genes was identified. f The mutation c.2228 C > T was located in exon 21 and resulted in a change of serine to leucine at position 743 (S743L). The arrows indicate the position of the missense mutation. g The S743L (red star) in the transmembrane domain 10 and the serine residue (arrow) in the S743L variant is highly conserved in mammalian OCA2 proteins. h The protein expression of OCA2 from mutants was significantly lower than that from WT pigs in eyes and scalp (WT: n = 3, S743: n = 3; **P < 0.01). i Fundus photographs of S743L pigs showed overt hypopigmentation in both eyes compared with WT pigs. OS (oculus sinister): left eye; OD (oculus dexter): right eye. j The ocular tissues from S743L pigs revealed an obvious reduction in melanin in RPE cells, choroid (CH), and IPE cells compared with those from WT pigs. OLM, outer limiting membrane; ONL, outer nuclear layer; OPL, outer plexiform layer; INL, inner nuclear layer; IPL, inner plexiform layer; GCL, ganglion-cell layer. k The number of pigmented melanosomes decreased in the iris, RPE, and choroid of S743L pigs compared with that in WT pigs. l The S743L pigs displayed a reduction of melanin in hair follicles. The right panel indicates a magnification of hair follicle in the dashed line. Scale bars: 50 μm. m The male and female S743L pigs exhibited a similar growth curve to those of age-matched WT piglets over a 6-month period (male WT: n = 20, S743: n = 8; female WT: n = 20, S743: n = 6; P > 0.05). n A 6-month-old mutant exhibits a dilution of coat color compared with its littermate control. o The reproductive traits of S743L pigs were indistinguishable from those of WT piglets, including total litter size, number weaned, and mean litter birth weight (WT: n = 12, S743: n = 5; P > 0.05)