OMIA:002851-9823 : PDCD1-deficiency in Sus scrofa (pig) |
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600244 (gene) , 126200 (trait) , 605218 (trait)
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: Nguyen et al. (2024) "generated a PD-1 mutant pig using electroporation-mediated introduction of the CRISPR/Cas9 system into porcine zygotes to evaluate the PD-1 gene deficiency phenotype." Two gene edited piglets were born. This study involves 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 |
|---|---|---|---|---|---|---|
| PDCD1 | programmed cell death 1 | Sus scrofa | 15 | NC_010457.5 (140347493..140337353) | PDCD1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002851-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Nguyen, T.V., Do, L.T.K., Lin, Q., Nagahara, M., Namula, Z., Wittayarat, M., Hirata, M., Otoi, T., Tanihara, F. : |
| Programmed cell death-1-modified pig developed using electroporation-mediated gene editing for in vitro fertilized zygotes. In Vitro Cell Dev Biol Anim , 2024. Pubmed reference: 38485817. DOI: 10.1007/s11626-024-00869-4. |
Edit History
- Created by Imke Tammen2 on 04 May 2024