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

Considered a defect: 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].


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 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 , 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 , 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 , 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.
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