OMIA:002078-9823 : Tyrosinaemia, type I in Sus scrofa (pig) |
In other species: rabbit
Categories: Homeostasis / metabolism phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 276700 (trait) , 613871 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: no
Cross-species summary: Tyrosinemia, type I
Species-specific description: The affected pigs described in the papers cited below are 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
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FAH | fumarylacetoacetate hydrolase (fumarylacetoacetase) | Sus scrofa | 7 | NC_010449.5 (49047833..49087790) | FAH | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002078-9823: 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 | Gu, P., Yang, Q., Chen, B., Bie, Y.N., Liu, W., Tian, Y., Luo, H., Xu, T., Liang, C., Ye, X., Liu, Y., Tang, X., Gu, W. : |
| Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I. Mol Ther Methods Clin Dev 21:530-547, 2021. Pubmed reference: 33997102. DOI: 10.1016/j.omtm.2021.04.002. | |
| 2019 | Hickey, R.D., Nicolas, C.T., Allen, K., Mao, S., Elgilani, F., Glorioso, J., Amiot, B., VanLith, C., Guthman, R., Du, Z., Chen, H., Harding, C.O., Kaiser, R.A., Nyberg, S.L., Lillegard, J.B. : |
| Autologous gene and cell therapy provides safe and long-term curative therapy in a large pig model of hereditary tyrosinemia type 1. Cell Transplant 28:79-88, 2019. Pubmed reference: 30477316. DOI: 10.1177/0963689718814188. | |
| 2017 | Elgilani, F., Mao, S.A., Glorioso, J.M., Yin, M., Iankov, I.D., Singh, A., Amiot, B., Rinaldo, P., Marler, R.J., Ehman, R.L., Grompe, M., Lillegard, J.B., Hickey, R.D., Nyberg, S.L. : |
| Chronic phenotype characterization of a large-animal model of hereditary tyrosinemia type 1. Am J Pathol 187:S0002-9440(16)30417-5:33-41, 2017. Pubmed reference: 27855279. DOI: 10.1016/j.ajpath.2016.09.013. | |
| 2016 | Hickey, R.D., Mao, S.A., Glorioso, J., Elgilani, F., Amiot, B., Chen, H., Rinaldo, P., Marler, R., Jiang, H., DeGrado, T.R., Suksanpaisan, L., O'Connor, M.K., Freeman, B.L., Ibrahim, S.H., Peng, K.W., Harding, C.O., Ho, C.S., Grompe, M., Ikeda, Y., Lillegard, J.B., Russell, S.J., Nyberg, S.L. : |
| Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. Sci Transl Med 8:349ra99, 2016. Pubmed reference: 27464750. DOI: 10.1126/scitranslmed.aaf3838. | |
| 2014 | Hickey, R.D., Mao, S.A., Glorioso, J., Lillegard, J.B., Fisher, J.E., Amiot, B., Rinaldo, P., Harding, C.O., Marler, R., Finegold, M.J., Grompe, M., Nyberg, S.L. : |
| Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease. Stem Cell Res 13:144-53, 2014. Pubmed reference: 24879068. DOI: 10.1016/j.scr.2014.05.003. | |
| 2011 | Hickey, R.D., Lillegard, J.B., Fisher, J.E., McKenzie, T.J., Hofherr, S.E., Finegold, M.J., Nyberg, S.L., Grompe, M. : |
| Efficient production of Fah-null heterozygote pigs by chimeric adeno-associated virus-mediated gene knockout and somatic cell nuclear transfer. Hepatology 54:1351-9, 2011. Pubmed reference: 21674562. DOI: 10.1002/hep.24490. |
Edit History
- Created by Frank Nicholas on 22 Nov 2016
- Changed by Imke Tammen2 on 10 Jun 2021
- Changed by Imke Tammen2 on 18 Dec 2023