OMIA:000807-9823 : Polycystic kidney disease in Sus scrofa (pig)

In other species: crab-eating macaque , dog , domestic cat , lion , horse , Western roe deer , white-tailed deer , taurine cattle , sheep , rabbit , degu , markhor , springbok

Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 173900 (trait) , 601313 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Cross-species summary: PKD

Species-specific description: This disorder in pigs is the result of "mono-allelic knockout (KO) of PKD1 using zinc finger nuclease" (He et al., 2015). Affected animals are, therefore, genetically-modified organisms (GMO). Watanabe et al. (2022) "used CRISPR-Cas9 and somatic cell cloning to produce pigs with the unique mutation c.152_153insG (PKD1insG/+). Pathological analysis of founder cloned animals and progeny revealed that PKD1insG/+ pigs developed many pathological conditions similar to those of patients with heterozygous mutations in PKD1."

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
PKD1 polycystic kidney disease 1 (autosomal dominant) Sus scrofa 3 NC_010445.4 (39849579..39899455) PKD1 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Year Published PubMed ID(s) Acknowledgements
1404 Polycystic kidney disease PKD1 PKD1^insG/+ insertion, small (<=20) Genome-editing (CRISPR-Cas9) 3 c.152_153insG 2022 34980882
1406 Polycystic kidney disease PKD1 PKD1^Tins/+ insertion, small (<=20) Genome-editing (ZFN) 3 c.642_643insT 2015 25798056
1405 Polycystic kidney disease PKD1 PKD1^TGCTins/+ insertion, small (<=20) Genome-editing (ZFN) 3 c.642_643insTGCT 2015 25798056

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000807-9823: 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.

2023 Liang, J., Liu, Y. :
Animal models of kidney disease: Challenges and perspectives. Kidney360 4:1479-1493, 2023. Pubmed reference: 37526653. DOI: 10.34067/KID.0000000000000227.
Sieben, C.J., Harris, P.C. :
Experimental models of polycystic kidney disease: applications and therapeutic testing. Kidney360 4:1155-1173, 2023. Pubmed reference: 37418622. DOI: 10.34067/KID.0000000000000209.
2022 Wang, R., Li, W., Dai, H., Zhu, M., Li, L., Si, G., Bai, Y., Wu, H., Hu, X., Xing, Y. :
PKD1 deficiency induces bronchiectasis in a porcine ADPKD model. Respir Res 23:292, 2022. Pubmed reference: 36309681. DOI: 10.1186/s12931-022-02214-3.
Watanabe, M., Umeyama, K., Nakano, K., Matsunari, H., Fukuda, T., Matsumoto, K., Tajiri, S., Yamanaka, S., Hasegawa, K., Okamoto, K., Uchikura, A., Takayanagi, S., Nagaya, M., Yokoo, T., Nakauchi, H., Nagashima, H. :
Generation of heterozygous PKD1 mutant pigs exhibiting early-onset renal cyst formation. Lab Invest 102:560-569, 2022. Pubmed reference: 34980882. DOI: 10.1038/s41374-021-00717-z.
2021 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.
Wang, R., Li, W., Zhang, S., Song, Y., Dai, H., Tan, T., Hu, X,, Xing, Y. :
The effects of intrinsic apoptosis on cystogenesis in PKD1-deficient ADPKD pig model. Gene 798:145792, 2021. Pubmed reference: 34175399. DOI: 10.1016/j.gene.2021.145792.
2020 Koslowski, S., Latapy, C., Auvray, P., Blondel, M., Meijer, L. :
An overview of in vivo and in vitro models for autosomal dominant polycystic kidney disease: A journey from 3D-cysts to mini-pigs. Int J Mol Sci 21:4537, 2020. Pubmed reference: 32630605. DOI: 10.3390/ijms21124537.
2015 He, J., Li, Q., Fang, S., Guo, Y., Liu, T., Ye, J., Yu, Z., Zhang, R., Zhao, Y., Hu, X., Bai, X., Chen, X., Li, N. :
PKD1 mono-allelic knockout is sufficient to trigger renal cystogenesis in a mini-pig model. Int J Biol Sci 11:361-9, 2015. Pubmed reference: 25798056. DOI: 10.7150/ijbs.10858.
1982 Ollivier, L., Sellier, P. :
Pig genetics: a review Annales de Genetique et de Selection Animale 14:481-544, 1982.

Edit History

  • Created by Frank Nicholas on 16 Jul 2020
  • Changed by Imke Tammen2 on 26 Dec 2021
  • Changed by Imke Tammen2 on 09 Jan 2022
  • Changed by Imke Tammen2 on 15 Nov 2022
  • Changed by Imke Tammen2 on 12 Dec 2023