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]. 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 | 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