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

Contact us

If you notice anything missing or in need of change, please contact us at: [email protected].

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