OMIA 002247-9823 : Microvillus inclusion disease in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 251850 (trait) , 606540 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Engevik et al. (2020: "Pigs were cloned by transfer of chromatin from swine primary fetal fibroblasts, which were edited with TALENs and single strand oligonucleotide to introduce a P663 to L663 substitution in the endogenous swine MYO5B (corresponding to the P660L mutation in human MYO5B, associated with [human] MVID [Microvillus inclusion disease]) to fertilized oocytes". These pigs are genetically-modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MYO5B myosin VB Sus scrofa 1 NC_010443.5 (99810934..99418242) MYO5B Homologene, Ensembl, NCBI gene

Reference


2020 Engevik, A.C., Coutts, A.W., Kaji, I., Rodriguez, P., Ongaratto, F., Saqui-Salces, M., Medida, R.L., Meyer, A.R., Kolobova, E., Engevik, M.A., Williams, J.A., Shub, M.D., Carlson, D.F., Melkamu, T., Goldenring, J.R. :
Editing myosin VB gene to create porcine model of microvillus inclusion disease, with microvillus-lined inclusions and alterations in sodium transporters. Gastroenterology 158:2236-2249, 2020. Pubmed reference: 32112796. DOI: 10.1053/j.gastro.2020.02.034.

Edit History


  • Created by Frank Nicholas on 02 Mar 2020
  • Changed by Frank Nicholas on 02 Mar 2020