OMIA 000202-9986 : Coat colour, albinism in Oryctolagus cuniculus

In other species: domestic cat , cattle , dog , 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 , pig , 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: yes

Key variant known: yes

Year key variant first reported: 2000

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: See Robinson (1958, pp. 338-340)

Molecular basis: In a study that compared the sequence of the tyrosinase gene in eight strains of rabbit, Aigner et al. (2000) showed that albinism is due to a 1118C>A substitution giving rise to a missense mutation (Thr>Lys) at codon 373. This same mutation causes type I oculocutaneous albinism in humans.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Oryctolagus cuniculus 1 NC_013669.1 (127667330..127563000) TYR Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, albinism TYR missense OryCun2.0 1 g.127636997C>A c.1118C>A p.T373K 2000 10920244 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2015 Honda, A., Hirose, M., Sankai, T., Yasmin, L., Yuzawa, K., Honsho, K., Izu, H., Iguchi, A., Ikawa, M., Ogura, A. :
Single-step generation of rabbits carrying a targeted allele of the tyrosinase gene using CRISPR/Cas9. Exp Anim 64:31-7, 2015. Pubmed reference: 25195632. DOI: 10.1538/expanim.14-0034.
2006 Chantry-Darmon, C., Urien, C., de Rochambeau, H., Allain, D., Pena, B., Hayes, H., Grohs, C., Cribiu, E.P., Deretz-Picoulet, S., Larzul, C., Save, J.C., Neau, A., Chardon, P., Rogel-Gaillard, C. :
A first-generation microsatellite-based integrated genetic and cytogenetic map for the European rabbit (Oryctolagus cuniculus) and localization of angora and albino. Anim Genet 37:335-41, 2006. Pubmed reference: 16879342. DOI: 10.1111/j.1365-2052.2006.01462.x.
2000 Aigner, B., Besenfelder, U., Muller, M., Brem, G. :
Tyrosinase gene variants in different rabbit strains. Mammalian Genome 11:700-2, 2000. Pubmed reference: 10920244.
1997 Jeffery, G., Brem, G., Montoliu, L. :
Correction of retinal abnormalities found in albinism by introduction of a functional tyrosinase gene in transgenic mice and rabbits. Brain Res Dev Brain Res 99:95-102, 1997. Pubmed reference: 9088570.
1996 Aigner, B., Besenfelder, U., Seregi, J., Frenyo, LV., Sahin-Toth, T., Brem, G. :
Expression of the murine wild-type tyrosinase gene in transgenic rabbits. Transgenic Res 5:405-11, 1996. Pubmed reference: 8840523.
Brem, G., Besenfelder, U., Aigner, B., Muller, M., Liebl, I., Schutz, G., Montoliu, L. :
YAC transgenesis in farm animals: rescue of albinism in rabbits. Mol Reprod Dev 44:56-62, 1996. Pubmed reference: 8722692. DOI: 10.1002/(SICI)1098-2795(199605)44:1<56::AID-MRD6>3.0.CO;2-S.
1995 Acheampong, A.A., Shackleton, M., Tangliu, D.D.S. :
Comparative ocular pharmacokinetics of brimonidine after a single dose application to the eyes of albino and pigmented rabbits Drug Metabolism and Disposition 23:708-712, 1995. Pubmed reference: 7587958.
1994 Putting, B.J., Vanbest, J.A., Verensen, G.F.J.M., Oosterhuis, J.A. :
Blue-Light-Induced Dysfunction of the Blood-Retinal Barrier at the Pigment Epithelium in Albino Versus Pigmented Rabbits Experimental Eye Research 58:31-40, 1994. Pubmed reference: 8157099. DOI: 10.1006/exer.1994.1192.
1993 Loewenstein, A., Zemel, E., Lazar, M., Perlman, I. :
Drug-Induced Retinal Toxicity in Albino Rabbits - The Effects of Imipenem and Aztreonam Investigative Ophthalmology & Visual Science 34:3466-3476, 1993. Pubmed reference: 8225881.
1987 Sandberg, K., Andersson, L. :
Linkage of albino and hemoglobin beta-chain loci in the rabbit Journal of Heredity 78:124-125, 1987. Pubmed reference: 3584936.
1973 Bennett, J., Bauer, J., Wu, C.K., Kolker, A.E. :
Recombination between buphthalmos and albino loci in the rabbit. J Hered 64:363-4, 1973. Pubmed reference: 4782848.
1964 Waltman, S., Sears, M. :
Catechol-O-methyl transferase and monamine oxidase activity in the ocular tissue of albino rabbits Invest Ophthalmol 3:601-5, 1964. Pubmed reference: 14238873.
1958 Robinson, R. :
Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958.
1924 Castle, W.E. :
On the Occurrence in Rabbits of Linkage in Inheritance between Albinism and Brown Pigmentation. Proc Natl Acad Sci U S A 10:486-8, 1924. Pubmed reference: 16576859.
1905 Punnett, R.C. :
Mendelism. Macmillan and Bowes, Cambridge :, 1905.

Edit History


  • Created by Frank Nicholas on 31 Mar 2010
  • Changed by Frank Nicholas on 08 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 29 Apr 2016