OMIA:000807-9541 : Polycystic kidney disease in Macaca fascicularis

In other species: domestic cat , horse , dog , white-tailed deer , sheep , degu , rabbit , springbok , Western roe deer , pig , markhor , lion

Categories: Renal / urinary system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 173900 (trait) , 601313 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: PKD

Species-specific description: In addition to the occurrence of natural variants for this trait, variants have been created artificially: Genetically-modifed organism; GMO.

Molecular basis: Wu et al. (2023) investigated two cynomolgus monkeys with naturally occurring polycystic kidney and liver disease. "Based on [whole-genome sequencing] WGS results, the variants of PKD1:(XM_015442355: c.1144G>C p. E382Q) and GANAB: (NM_001285075.1: c.2708T>C/p. V903A) are predicted to be likely pathogenic heterozygous mutations in PKD- and PLD-affected monkeys."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PKD1L2 polycystic kidney disease 1-like 2 Macaca fascicularis 20 NC_052274.1 (67959995..67852578) PKD1L2 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000807-9541: 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 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