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
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
173900 (trait)
,
601313 (gene)
Mendelian trait/disorder:
yes
Considered a defect:
yes
Key variant known:
no
Cross-species summary:
PKD
Species-specific description:
This disorder in this species was created by the use of CRISPR/Cas9 technology. These animals are therefore genetically-modified organisms (GMO)
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 |
Reference
| 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