OMIA:000807-9541 : Polycystic kidney disease in Macaca fascicularis |
In other species: domestic cat , horse , dog , , 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 |
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.
| 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