OMIA:002247-9823 : Microvillus inclusion disease in Sus scrofa (pig) |
Categories: Digestive / alimentary phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 251850 (trait) , 606540 (gene)
Mendelian trait/disorder: yes
Disease-related: 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).
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 |
|---|---|---|---|---|---|---|
| MYO5B | myosin VB | Sus scrofa | 1 | NC_010443.5 (99810934..99418242) | MYO5B | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002247-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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
- Changed by Imke Tammen2 on 18 Dec 2023