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

In other species: pig

Categories: Homeostasis / metabolism phene

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

Links to MONDO diseases:

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)

Genetic engineering: Unknown
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. (2020). OMIA:002078-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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