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. |
Edit History
- Created by Frank Nicholas on 16 Jul 2020