OMIA 002078-9823 : Tyrosinemia, type I in Sus scrofa

In other species: rabbit

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 description: The affected pigs described in the papers cited below are genetically-modified organisms (GMO)

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


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.
2016 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 :, 2016. Pubmed reference: 27855279. DOI: 10.1016/j.ajpath.2016.09.013.
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