OMIA:002293-9823 : Phenylketonuria in Sus scrofa (pig)

Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 261600 (trait) , 612349 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific symbol: PKU

Species-specific description: Koppes et al. (2020) "established a large-animal preclinical model of PKU to investigate pathophysiology and to assess new therapeutic interventions" by the use of CRISPR/Cas9 to create two mutations in the phenylalanine hydroxylase (PAH) gene: "One pig was heterozygous for a PAH exon 6 deletion allele, while the other was compound heterozygous for deletions of exon 6 and of exons 6-7 [of PAH]." Kaiser et al. (2021) also developed pigs with a causal PAH variant created via gene-editing. These animals are, therefore, genetically-modified organisms (GMO).

Genetic engineering: Unknown
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
PAH Sus scrofa 5 NC_010447.5 (81385401..81460569) PAH Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002293-9823: 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 Kaiser, R.A., Carlson, D.F., Allen, K.L., Webster, D.A., VanLith, C.J., Nicolas, C.T., Hillin, L.G., Yu, Y., Kaiser, C.W., Wahoff, W.R., Hickey, R.D., Watson, A.L., Winn, S.R., Thöny, B., Kern, D.R., Harding, C.O., Lillegard, J.B. :
Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing. PLoS One 16:e0245831, 2021. Pubmed reference: 33493163. DOI: 10.1371/journal.pone.0245831.
Tanihara, F., Hirata, M., Otoi, T. :
Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025.
2020 Koppes, E.A., Redel, B.K., Johnson, M.A., Skvorak, K.J., Ghaloul-Gonzalez, L., Yates, M.E., Lewis, D.W., Gollin, S.M., Wu, Y.L., Christ, S.E., Yerle, M., Leshinski, A., Spate, L.D., Benne, J.A., Murphy, S.L., Samuel, M.S., Walters, E.M., Hansen, S.A., Wells, K.D., Lichter-Konecki, U., Wagner, R.A., Newsome, J.T., Dobrowolski, S.F., Vockley, J., Prather, R.S., Nicholls, R.D. :
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing. JCI Insight 5, 2020. Pubmed reference: 33055427. DOI: 10.1172/jci.insight.141523.

Edit History

  • Created by Frank Nicholas on 27 Oct 2020
  • Changed by Frank Nicholas on 28 Jan 2021
  • Changed by Imke Tammen2 on 26 Dec 2021