OMIA 002078-9986 : Tyrosinemia, type I in Oryctolagus cuniculus

In other species: pig

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 276700 (trait) , 613871 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific name: The affected rabbits described in these papers are genetically-modified organisms (GMO)


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.
2021 Li, N., Gou, S., Wang, J., Zhang, Q., Huang, X., Xie, J., Li, L., Jin, Q., Ouyang, Z., Chen, F., Ge, W., Shi, H., Liang, Y., Zhuang, Z., Zhao, X., Lian, M., Ye, Y., Quan, L., Wu, H., Lai, L., Wang, K. :
CRISPR/Cas9-mediated gene correction in newborn rabbits with hereditary tyrosinemia type I. Mol Ther 29:1001-1015, 2021. Pubmed reference: 33221434. DOI: 10.1016/j.ymthe.2020.11.023.
2017 Li, L., Zhang, Q., Yang, H., Zou, Q., Lai, C., Jiang, F., Zhao, P., Luo, Z., Yang, J., Chen, Q., Wang, Y., Newsome, P.N., Frampton, J., Maxwell, P.H., Li, W., Chen, S., Wang, D., Siu, T.S., Tam, S., Tse, H.F., Qin, B., Bao, X., Esteban, M.A., Lai, L. :
Fumarylacetoacetate hydrolase knock-out rabbit model for hereditary tyrosinemia type 1. J Biol Chem 292:4755-4763, 2017. Pubmed reference: 28053091. DOI: 10.1074/jbc.M116.764787.

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  • Created by Imke Tammen2 on 01 Dec 2020