OMIA:002525-9823 : Polycystic kidney disease-2 in Sus scrofa (pig)

In other species: domestic cat

Categories: Renal / urinary system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 173910 (gene) , 613095 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific description: Zhang et al. (2022) "tried to establish a porcine transgenic model overexpressing human PKD2-D511V (hPKD2-D511V), which is a dominant-negative mutation in the vertebrate in vitro models. A total of six cloned pigs were finally obtained using somatic cell nuclear transfer. However, five with functional hPKD2-D511V died shortly after birth, leaving only one with the dysfunctional transgenic event to survive. Compared with the WT pigs, the demised transgenic pigs had elevated levels of hPKD2 expression at the mRNA and protein levels. Additionally, no renal malformation was observed, indicating that hPKD2-D511V did not alter normal kidney development. RNA-seq analysis also revealed that several ADPKD-related pathways were disturbed when overexpressing hPKD2-D511V. Therefore, our study implies that hPKD2-D511V may be lethal due to the dominant-negative effect." This study involves genetically modified organisms (GMO).

Molecular basis: Zhang et al. (2022): "transgenic pigs were created with hPKD2-D511V. To avoid position-effect in transgenic animals, the non-homologous end joining mediated targeted insertion was adapted to insert the transgene vector into the pH11 safe harbor ... ."

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
PKD2 polycystic kidney disease 2 (autosomal dominant) Sus scrofa 8 NC_010450.4 (131058932..131002973) PKD2 Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1523 PKD2 overexpression PKD2 insertion, gross (>20) Genome-editing (CRISPR-Cas9) insertion of transgene vector pCAG-muhPKD2 (c.1532A > T/p.511D > V)-3 × FLAG-floxP-neo-pH11 into the pH11 safe harbor site 2022 36452154

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002525-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2022 Zhang, Y., Xu, S., Jin, Q., Luo, J., Gao, C., Jayaprakash, S., Wang, H., Zhuang, L., He, J. :
Establishment of transgenic pigs overexpressing human PKD2-D511V mutant. Front Genet 13:1059682, 2022. Pubmed reference: 36452154. DOI: 10.3389/fgene.2022.1059682.

Edit History

  • Created by Imke Tammen2 on 12 Jan 2023
  • Changed by Imke Tammen2 on 12 Jan 2023
  • Changed by Imke Tammen2 on 18 Dec 2023