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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 276700

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.
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.

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  • Created by Frank Nicholas on 22 Nov 2016