OMIA:000899-9823 : Severe combined immunodeficiency disease, X-linked in Sus scrofa (pig) |
In other species: dog , golden hamster
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300400 (trait) , 308380 (gene) , 312863 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: X-linked recessive
Disease-related: yes
Key variant known: no
Species-specific description: This disorder in pigs has been produced by targeted disruption of the IL2RG gene (mutations in which cause X-linked SCID in dogs and humans) in somatic cells, followed by cloning by nuclear transfer to produce pigs with one or two copies of the X-linked disrupted gene. Thus, the reports in this entry concern a genetically-modified organism (GMO)
Molecular basis: Suzuki et al. (2012) used homologous recombination to create a disrupted allele of the IL2RG gene in somatic cells, followed by serial nuclear transfer, to establish a line of pigs segregating for the X-linked disrupted allele and hence for X-linked SCID. Watanabe et al. (2013) produced a similar line of pigs by using a similar strategy, except that the gene disruption was created via zinc finger nuclease (ZFN) technology.
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 |
|---|---|---|---|---|---|---|
| IL2RG | interleukin 2 receptor, gamma | Sus scrofa | X | NC_010461.5 (57151242..57143568) | IL2RG | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000899-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2024 | Monarch, K., Yoon, J., Uh, K., Reese, E., Restrepo, D.C., de Carvalho Madrid, D.M., Touchard, L., Spate, L.D., Samuel, M.S., Driver, J.P., Lim, J.H., Schlink, S., Whitworth, K.M., Wells, K.D., Prather, R.S., Chen, P.R., Lee, K. : |
| Fetal bone engraftment reconstitutes the immune system in pigs with severe combined immunodeficiency. Lab Anim (NY) 53:276-286, 2024. Pubmed reference: 39289566. DOI: 10.1038/s41684-024-01439-7. | |
| Redel, B.K., Yoon, J., Reese, E., An, H., Uh, K., Chen, P.R., Prather, R.S., Lee, K. : | |
| Novel off-targeting events identified after genome wide analysis of CRISPR-Cas edited pigs. CRISPR J 7:141-149, 2024. Pubmed reference: 38770737. DOI: 10.1089/crispr.2024.0012. | |
| 2023 | Imran, K.M., Gannon, J., Morrison, H.A., Tupik, J.D., Tintera, B., Nagai-Singer, M.A., Ivester, H., Madanick, J.M., Hendricks-Wenger, A., Uh, K., Luyimbazi, D.T., Edwards, M., Coutermarsh-Ott, S., Eden, K., Byron, C., Clark-Deener, S., Lee, K., Vlaisavljevich, E., Allen, I.C. : |
| Successful in situ targeting of pancreatic tumors in a novel orthotopic porcine model using histotripsy. Ultrasound Med Biol 49:2361-2370, 2023. Pubmed reference: 37596154. DOI: 10.1016/j.ultrasmedbio.2023.07.013. | |
| 2021 | Tanihara, F., Hirata, M., Otoi, T. : |
| Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025. | |
| 2020 | Nochi, T., Suzuki, S., Ito, S., Morita, S., Furukawa, M., Fuchimoto, D., Sasahara, Y., Usami, K., Niimi, K., Itano, O., Kitago, M., Matsuda, S., Matsuo, A., Suyama, Y., Sakai, Y., Wu, G., Bazer, F.W., Watanabe, K., Onishi, A., Aso, H. : |
| Elucidation of the effects of a current X-SCID therapy on intestinal lymphoid organogenesis using an in vivo animal model. Cell Mol Gastroenterol Hepatol 10:83-100, 2020. Pubmed reference: 32017983. DOI: 10.1016/j.jcmgh.2020.01.011. | |
| Ren, J., Yu, D., Fu, R., An, P., Sun, R., Wang, Z., Guo, R., Li, H., Zhang, Y., Li, Z., Yang, Y.G., Li, W., Hai, T., Hu, Z. : | |
| IL2RG-deficient minipigs generated via CRISPR/Cas9 technology support the growth of human melanoma-derived tumours. Cell Prolif 53:e12863, 2020. Pubmed reference: 32871045. DOI: 10.1111/cpr.12863. | |
| 2019 | Carey, K., Ryu, J., Uh, K., Lengi, A.J., Clark-Deener, S., Corl, B.A., Lee, K. : |
| Frequency of off-targeting in genome edited pigs produced via direct injection of the CRISPR/Cas9 system into developing embryos. BMC Biotechnol 19:25, 2019. Pubmed reference: 31060546. DOI: 10.1186/s12896-019-0517-7. | |
| Chen, B., Gu, P., Jia, J., Liu, W., Liu, Y., Liu, W., Xu, T., Lin, X., Lin, T., Liu, Y., Chen, H., Xu, M., Yuan, J., Zhang, J., Zhang, Y., Xiao, D., Gu, W. : | |
| Optimization strategy for generating gene-edited Tibet minipigs by synchronized oestrus and cytoplasmic microinjection. Int J Biol Sci 15:2719-2732, 2019. Pubmed reference: 31754342. DOI: 10.7150/ijbs.35930. | |
| Iqbal, M.A., Hong, K., Kim, J.H., Choi, Y. : | |
| Erratum to: Severe combined immunodeficiency pig as an emerging animal model for human diseases and regenerative medicines. BMB Rep 52:718-727, 2019. Pubmed reference: 31878988. | |
| Iqbal, M.A., Hong, K., Kim, J.H., Choi, Y. : | |
| Severe combined immunodeficiency pig as an emerging animal model for human diseases and regenerative medicines. BMB Rep 52:625-634, 2019. Pubmed reference: 31722780. DOI: 10.5483/BMBRep.2019.52.11.267. | |
| 2016 | Kang, J.T., Cho, B., Ryu, J., Ray, C., Lee, E.J., Yun, Y.J., Ahn, S., Lee, J., Ji, D.Y., Jue, N., Clark-Deener, S., Lee, K., Park, K.W. : |
| Biallelic modification of IL2RG leads to severe combined immunodeficiency in pigs. Reprod Biol Endocrinol 14:74, 2016. Pubmed reference: 27809915. DOI: 10.1186/s12958-016-0206-5. | |
| Lei, S., Ryu, J., Wen, K., Twitchell, E., Bui, T., Ramesh, A., Weiss, M., Li, G., Samuel, H., Clark-Deener, S., Jiang, X., Lee, K., Yuan, L. : | |
| Increased and prolonged human norovirus infection in RAG2/IL2RG deficient gnotobiotic pigs with severe combined immunodeficiency. Sci Rep 6:25222, 2016. Pubmed reference: 27118081. DOI: 10.1038/srep25222. | |
| 2013 | Watanabe, M., Nakano, K., Matsunari, H., Matsuda, T., Maehara, M., Kanai, T., Kobayashi, M., Matsumura, Y., Sakai, R., Kuramoto, M., Hayashida, G., Asano, Y., Takayanagi, S., Arai, Y., Umeyama, K., Nagaya, M., Hanazono, Y., Nagashima, H. : |
| Generation of interleukin-2 receptor gamma gene knockout pigs from somatic cells genetically modified by zinc finger nuclease-encoding mRNA. PLoS One 8:e76478, 2013. Pubmed reference: 24130776. DOI: 10.1371/journal.pone.0076478. | |
| 2012 | Suzuki, S., Iwamoto, M., Saito, Y., Fuchimoto, D., Sembon, S., Suzuki, M., Mikawa, S., Hashimoto, M., Aoki, Y., Najima, Y., Takagi, S., Suzuki, N., Suzuki, E., Kubo, M., Mimuro, J., Kashiwakura, Y., Madoiwa, S., Sakata, Y., Perry, A.C., Ishikawa, F., Onishi, A. : |
| Il2rg gene-targeted severe combined immunodeficiency pigs. Cell Stem Cell 10:753-8, 2012. Pubmed reference: 22704516. DOI: 10.1016/j.stem.2012.04.021. |
Edit History
- Created by Frank Nicholas on 14 May 2014
- Changed by Frank Nicholas on 14 May 2014
- Changed by Frank Nicholas on 19 Apr 2018
- Changed by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 12 Dec 2023