OMIA:000202-121573 : Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related in Rhabdomys pumilio (four-striped grass mouse)

In other species: Japanese medaka , axolotl , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , ball python , water buffalo , ocelot gecko , American mink , Japanese raccoon dog , Rice frog

Categories: Pigmentation phene , Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)

Mendelian trait/disorder: unknown

Disease-related: no

Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as oculocutaneous albinism (OCA), acromelanism and as the Himalayan coat-colour pattern

Species-specific description: Li et al. (2023): "using the African striped mouse (Rhabdomys pumilio), we describe TIGER (targeted in vivo genome editing in rodents), a method that relies on a simple intraoviductal injecting technique and uses recombinant adeno-associated viruses (rAAVs) as the sole vehicle to deliver reagents into pregnant females. We demonstrate that TIGER generates knockout and knockin (up to 3 kb) lines with high efficiency." One of the lines is a TYR knockout that resulted in albino animals. This study involves genetically modified organisms (GMO).

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000202-121573: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Li, S., Mereby, S.A., Rothstein, M., Johnson, M.R., Brack, B.J., Mallarino, R. :
TIGER: Single-step in vivo genome editing in a non-traditional rodent. Cell Rep 42:112980, 2023. Pubmed reference: 37573509. DOI: 10.1016/j.celrep.2023.112980.

Edit History


  • Created by Imke Tammen2 on 15 Aug 2023
  • Changed by Imke Tammen2 on 18 Aug 2023
  • Changed by Imke Tammen2 on 10 Dec 2023