OMIA 000202-9823 : Coat colour, albinism in Sus scrofa

In other species: domestic cat , cattle , dog , rabbit , sheep , Sumatran tiger , western chorus frog , grass carp , golden hamster , gray short-tailed opossum , raccoon , meadow voles , water buffalo , Arizona pocket mouse , nutria , eastern chipmunk , rufous rat-kangaroo , hippopotamus , hares , northern pocket gopher , North American deer mouse , ass , Japanese medaka , rainbow trout , brown bear , American mink , grivet , goldfish , Campbell's desert hamster , humpback whale , axolotl , African clawed frog , turkey vulture , American black bear , domestic ferret , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , Bornean orangutan , lion , Mongolian gerbil

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203100

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: no

Cross-species summary: Congenital lack of pigment in all parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA)

Species-specific description: There are no reports of albinism occurring naturally in pigs. This entry has been created because "transgenic" albino pigs have been produced by knocking out the TYR gene, using CRISPR/Cas9-mediated gene-targeted pigs via somatic cell nuclear transfer (Zhou et al., 2015): Genetically-modifed organism; GMO

Molecular basis: Zhou et al. (2015) "applied Cas9/sgRNAs to effectively direct gene editing in porcine fetal fibroblasts and then mutant cell colonies were used as donor to generate homozygous gene-targeted pigs through single round of SCNT. As a result, . . [they] successfully obtained 15 tyrosinase (TYR) biallelic mutant pigs. . . . They were all homozygous and no off-target mutagenesis was detected by comprehensive analysis. TYR (-/-) pigs showed typical albinism".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Sus scrofa 9 NC_010451.4 (22517047..22604290) TYR Homologene, Ensembl, NCBI gene

Reference


2015 Zhou, X., Xin, J., Fan, N., Zou, Q., Huang, J., Ouyang, Z., Zhao, Y., Zhao, B., Liu, Z., Lai, S., Yi, X., Guo, L., Esteban, M.A., Zeng, Y., Yang, H., Lai, L. :
Generation of CRISPR/Cas9-mediated gene-targeted pigs via somatic cell nuclear transfer. Cell Mol Life Sci 72:1175-84, 2015. Pubmed reference: 25274063. DOI: 10.1007/s00018-014-1744-7.

Edit History


  • Created by Frank Nicholas on 24 Apr 2015
  • Changed by Frank Nicholas on 24 Apr 2015
  • Changed by Frank Nicholas on 08 Aug 2017