OMIA:000499-9541 : Hypercholesterolaemia in Macaca fascicularis (crab-eating macaque)

In other species: Rhesus monkey , dog , pig , rabbit , golden hamster

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 143890 (trait) , 606945 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: Hypercholesterolemia; see also OMIA:001160: Hyperlipidaemia

Species-specific description: Sato et al. (2023) "generated an FH [familial hypercholesterolemia] model in a non-human primate (cynomolgus monkeys) by deleting the LDL receptor (LDLR) gene using the genome editing technique." This phene includes references to studies involving gene edited or genetically modified organisms (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
LDLR low density lipoprotein receptor Macaca fascicularis 19 NC_052273.1 (10831712..10873731) LDLR Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000499-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2023 Sato, A., Tsukiyama, T., Komeno, M., Iwatani, C., Tsuchiya, H., Kawamoto, I., Murase, M., Nakagawa, T., Itagaki, I., Seita, Y., Matsumoto, S., Nakaya, M., Shimizu, A., Yamada, A., Ema, M., Ogita, H. :
Generation of a familial hypercholesterolemia model in non-human primate. Sci Rep 13:15649, 2023. Pubmed reference: 37730951. DOI: 10.1038/s41598-023-42763-1.

Edit History

  • Created by Imke Tammen2 on 22 Sep 2023
  • Changed by Imke Tammen2 on 10 Dec 2023