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