OMIA:002329-9986 : Hypercholesterolaemia, PCSK9-related in Oryctolagus cuniculus (rabbit) |
In other species: pig
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 603776 (trait) , 607786 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Cross-species summary: Hypercholesterolemia
Species-specific description: Genetically-modified organism; GMO
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PCSK9 | proprotein convertase subtilisin/kexin type 9 | Oryctolagus cuniculus | 13 | NC_067386.1 (112067007..112048434) | PCSK9 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002329-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2021 | Yan, K., Cheng, Y., Liang, J., Zha, Y., Zhang, T. : |
| Construction of point mutation rabbits using CRISPR/Cas9. Zhejiang Da Xue Xue Bao Yi Xue Ban 50:229-238, 2021. Pubmed reference: 34137224. DOI: 10.3724/zdxbyxb-2021-0133. |
Edit History
- Created by Imke Tammen2 on 25 Jun 2021
- Changed by Imke Tammen2 on 25 Jun 2021
- Changed by Imke Tammen2 on 18 Dec 2023