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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 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