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].


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