OMIA:002944-8128 : Patched1-deficiency in Oreochromis niloticus (Nile tilapia) |
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601309 (gene)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: no
Key variant is published: no
Molecular basis: Liu et al. (2024) used CRISPR/Cas9 technology to knock out Ptch1 which resulted in angiogenesis defects and lethality.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ptch1 | patched 1 | Oreochromis niloticus | LG12 | NC_031977.2 (22915536..22864625) | ptch1 | Ensembl, NCBI gene |
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002944-8128: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Liu, X., Zhao, C., Liu, L., Peng, X., Li, J., Tao, W., Wang, D., Wei, J. : |
| Nile tilapia (Oreochromis niloticus) Patched1 mutations disrupt cardiovascular development and vascular integrity through smoothened signaling. Int J Mol Sci 25:3321, 2024. Pubmed reference: 38542295. DOI: 10.3390/ijms25063321. |
Edit History
- Created by Imke Tammen2 on 27 Apr 2025
- Changed by Imke Tammen2 on 27 Apr 2025