OMIA:002247-9823 : Microvillus inclusion disease in Sus scrofa (pig)
Categories: Digestive / alimentary phene
Links to MONDO diseases: No links.
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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|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|
Cite this entry
|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.|
- Created by Frank Nicholas on 02 Mar 2020
- Changed by Frank Nicholas on 02 Mar 2020