OMIA 000807-9823 : Polycystic kidney disease in Sus scrofa

In other species: domestic cat , horse , dog , , sheep , degu , rabbit , springbok , Western roe deer , crab-eating macaque , 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 pigs is the result of "mono-allelic knockout (KO) of PKD1 using zinc finger nuclease" (He et al., 2015). Affected animals are, therefore, genetically-modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PKD1 polycystic kidney disease 1 (autosomal dominant) Sus scrofa 3 NC_010445.4 (39849579..39899455) PKD1 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.
2021 Wang, R., Li, W., Zhang, S., Song, Y., Dai, H., Tan, T., Hu, X,, Xing, Y. :
The effects of intrinsic apoptosis on cystogenesis in PKD1-deficient ADPKD pig model. Gene :145792, 2021. Pubmed reference: 34175399. DOI: doi: 10.1016/j.gene.2021.145792.
2020 Koslowski, S., Latapy, C., Auvray, P., Blondel, M., Meijer, L. :
An overview of in vivo and in vitro models for autosomal dominant polycystic kidney disease: A journey from 3D-cysts to mini-pigs. Int J Mol Sci 21:, 2020. Pubmed reference: 32630605. DOI: 10.3390/ijms21124537.

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  • Created by Frank Nicholas on 16 Jul 2020