OMIA:000807-9541 : Polycystic kidney disease in Macaca fascicularis (crab-eating macaque) |
In other species: dog , domestic cat , lion , domestic horse , pig , 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:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: PKD
Species summary: In addition to the occurrence of natural variants for this trait, variants have been created artificially: Genetically-modifed organism; GMO.
Molecular basis:
Tsukiyama et al. (2019) used CRISPR/Cas9 technology to create cynomolgus monkey ADPKD models with PKD1 variants (GMO).
Wu et al. (2023) report a likely causal PKD1 variant (XM_015442355: c.1144G>C p. E382Q) in a cynomolgus monkeys with naturally occurring polycystic kidney and liver disease.
Genetic engineering:
Yes - in addition to the occurrence of natural variants, 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 | polycystin 1, transient receptor potential channel interacting | Macaca fascicularis | 20 | NC_088394.1 (2903354..2855566) | PKD1 | Ensembl, NCBI gene |
Variants
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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 | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1883 | Polycystic kidney disease | PKD1 | substitution | missense | Naturally occurring variant | Not currently evaluated | XM_015442355.1:c.1144G>C | p.(E382Q) | 2023 | 36876010 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:000807-9541: 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.
| 2026 | Matsumoto, S., Morimura, T., Kobayashi, K., Tsuji, K., Nakaya, M., Tsukiyama, T., Kawamoto, I., Nakagawa, T., Morishige, E., Fukuda, K., Iwakiri, T., Nozaki, K., Kawauchi, A., Kageyama, S., Kume, S., Nishio, S., Itoh, Y., Ema, M. : |
| Reversible cystogenesis in juvenile primate ADPKD models: evidence from PKD1 heterozygous monkeys. Hum Mol Genet 35:ddag011, 2026. Pubmed reference: 41843812. DOI: 10.1093/hmg/ddag011. | |
| 2023 | Wu, R., Bai, B., Li, F., Bai, R., Zhuo, Y., Zhu, Z., Jia, R., Li, S., Chen, Y., Lan, X. : |
| Phenotypes and genetic etiology of spontaneous polycystic kidney and liver disease in cynomolgus monkey. Front Vet Sci 10:1106016, 2023. Pubmed reference: 36876010. DOI: 10.3389/fvets.2023.1106016. | |
| 2019 | Tsukiyama, T., Kobayashi, K., Nakaya, M., Iwatani, C., Seita, Y., Tsuchiya, H., Matsushita, J., Kitajima, K., Kawamoto, I., Nakagawa, T., Fukuda, K., Iwakiri, T., Izumi, H., Itagaki, I., Kume, S., Maegawa, H., Nishinakamura, R., Nishio, S., Nakamura, S., Kawauchi, A., Ema, M. : |
| Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease. Nat Commun 10:5517, 2019. Pubmed reference: 31822676. DOI: 10.1038/s41467-019-13398-6. |
Edit History
- Created by Frank Nicholas on 29 Jan 2020
- Changed by Imke Tammen2 on 30 Aug 2021
- Changed by Imke Tammen2 on 07 Mar 2023
- Changed by Imke Tammen2 on 12 Dec 2023
- Changed by Imke Tammen2 on 31 Mar 2026