OMIA:000202-121573 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Rhabdomys pumilio (four-striped grass mouse)
In other species: Japanese medaka , 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 , water buffalo , ocelot gecko , American mink , Japanese raccoon dog , Rice frog
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: 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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|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.|
- Created by Imke Tammen2 on 15 Aug 2023
- Changed by Imke Tammen2 on 18 Aug 2023