OMIA 002217-9823 : Hyperphagia leading to hepatic steatosis in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 618406 , 618306

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: This disorder is a result of creating "MC4R biallelic knockout pigs using CRISPR/Cas9" (Hao et al., 2019). This entry thus concerns a genetically-modified organism (GMO).

Clinical features: Hao et al. (2019) concluded "that deletion of MC4R results in hyperphagia and increased body fat, ultimately leading to hepatic steatosis without atherogenic diet."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC4R melanocortin 4 receptor Sus scrofa 1 NC_010443.5 (160772013..160774124) MC4R Homologene, Ensembl, NCBI gene

Reference


2019 Hao, H., Lin, R., Li, Z., Shi, W., Huang, T., Niu, J., Han, J., Li, Q. :
MC4R deficiency in pigs results in hyperphagia and ultimately hepatic steatosis without high-fat diet. Biochem Biophys Res Commun :, 2019. Pubmed reference: 31629472. DOI: 10.1016/j.bbrc.2019.08.016.

Edit History


  • Created by Frank Nicholas on 22 Oct 2019
  • Changed by Frank Nicholas on 22 Oct 2019