OMIA:000499-9541 : Hypercholesterolaemia in Macaca fascicularis (crab-eating macaque) |
In other species: Rhesus monkey , dog , pig , rabbit , golden hamster
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 143890 (trait) , 606945 (gene)
Links to MONDO diseases: No links.
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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 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