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)

Single-gene trait/disorder: yes

Disease-related: 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 60:716-724, 2024. Pubmed reference: 38485817. DOI: 10.1007/s11626-024-00869-4.

Edit History


  • Created by Imke Tammen2 on 04 May 2024