OMIA:002950-8128 : Mitochondrial DNA depletion syndrome, MPV17-related in Oreochromis niloticus (Nile tilapia) |
Categories: Pigmentation phene , Cellular phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 137960 (gene) , 618400 (trait) , 256810 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: no
Species summary: Xu et al. (2024) used CRISPR/Cas9 technology to generate "an mpv17 homozygous mutant line in Nile tilapia. The developing mutants are transparent due to the loss of iridophores and aggregation of pigment granules in the melanophores and disappearance of the vertical pigment bars on the side of the fish." This phene includes references to studies involving gene edited or 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 |
|---|---|---|---|---|---|---|
| mpv17 | mitochondrial inner membrane protein MPV17 | Oreochromis niloticus | LG15 | NC_031980.2 (21525654..21541994) | mpv17 | Ensembl, NCBI gene |
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002950-8128: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Xu, J., Li, P., Xu, M., Wang, C., Kocher, T.D., Wang, D. : |
| Mutation of mpv17 results in loss of iridophores due to mitochondrial dysfunction in tilapia. J Hered 116:101-112, 2025. Pubmed reference: 38946032. DOI: 10.1093/jhered/esae034. |
Edit History
- Created by Imke Tammen2 on 30 Apr 2025