OMIA:002063-9823 : Hyperlipidaemia/atherosclerosis, APOE-related in Sus scrofa (pig)

In other species: dog , rabbit

Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 107741 (gene) , 617347 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2017

Species-specific description: This trait results from genetic modification via CRISPR/cas9: the affected animals are genetically-modified organisms (GMO).

Molecular basis: Fang et al. (2018): "clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 system (CRISPR/Cas9) was used to disrupt the ApoE gene in Bama miniature pigs. Biallelic-modified ApoE pigs with in-frame mutations (ApoEm/m ) and frameshift mutations (ApoE-/- ) were simultaneously produced. ApoE-/- pigs exhibited moderately increased plasma cholesterol levels when fed with a regular chow diet, but displayed severe hypercholesterolemia and spontaneously developed human-like atherosclerotic lesions in the aorta and coronary arteries after feeding on a high-fat and high-cholesterol (HFHC) diet for 6 months. Thus, these ApoE-/- pigs could be valuable large animal models for providing further insight into translational studies of atherosclerosis."

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
APOE apolipoprotein E Sus scrofa 6 NC_010448.4 (51373113..51375333) APOE Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002063-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 Zhang, J., Khazalwa, E.M., Abkallo, H.M., Zhou, Y., Nie, X., Ruan, J., Zhao, C., Wang, J., Xu, J., Li, X., Zhao, S., Zuo, E., Steinaa, L., Xie, S. :
The advancements, challenges, and future implications of the CRISPR/Cas9 system in swine research. J Genet Genomics 48:347-360, 2021. Pubmed reference: 34144928. DOI: 10.1016/j.jgg.2021.03.015.
Zhang, Y., Fatima, M., Hou, S., Bai, L., Zhao, S., Liu, E. :
Research methods for animal models of atherosclerosis (Review). Mol Med Rep 24:871, 2021. Pubmed reference: 34713295. DOI: 10.3892/mmr.2021.12511.
2018 Fang, B., Ren, X., Wang, Y., Li, Z., Zhao, L., Zhang, M., Li, C., Zhang, Z., Chen, L., Li, X., Liu, J., Xiong, Q., Zhang, L., Jin, Y., Liu, X., Li, L., Wei, H., Yang, H., Li, R., Dai, Y. :
Apolipoprotein E deficiency accelerates atherosclerosis development in miniature pigs. Dis Model Mech 11, 2018. Pubmed reference: 30305304. DOI: 10.1242/dmm.036632.
2017 Huang, L., Hua, Z., Xiao, H., Cheng, Y., Xu, K., Gao, Q., Xia, Y., Liu, Y., Zhang, X., Zheng, X., Mu, Y., Li, K. :
CRISPR/Cas9-mediated ApoE-/- and LDLR-/- double gene knockout in pigs elevates serum LDL-C and TC levels. Oncotarget 8:37751-37760, 2017. Pubmed reference: 28465483. DOI: 10.18632/oncotarget.17154.

Edit History

  • Created by Frank Nicholas on 30 May 2019
  • Changed by Frank Nicholas on 30 May 2019
  • Changed by Imke Tammen2 on 25 Jun 2021
  • Changed by Imke Tammen2 on 03 Nov 2021
  • Changed by Imke Tammen2 on 18 Dec 2023