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OMIA:001574-9031 : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Gallus gallus (chicken)

In other species: dog , pig

Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601457 (trait) , 179615 (gene) , 179616 (gene)

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: no

Year key variant first reported: 2022

Species summary: Lee et al. (2022) "generated an immunodeficient chicken model using a CRISPR/Cas9-mediated recombination activating gene 1 (RAG1) knockout, to investigate avian-specific immune cell development." This study involves gene edited or 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
RAG1 recombination activating 1 Gallus gallus 5 NC_052536.1 (19040483..19050348) RAG1 Ensembl, NCBI gene

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:001574-9031: 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.

2026 Woo, S.J., Kim, J., Seo, M., Han, J.Y. :
Exploiting RAG1-deficient chickens to construct a single-cell transcriptional atlas of chicken heterophils during inflammation. Front Immunol 17:1930258, 2026. Pubmed reference: 42889999. DOI: 10.3389/fimmu.2026.1930258.
2022 Lee, K.Y., Choi, H.J., Park, K.J., Woo, S.J., Kim, Y.M., Han, J.Y. :
Development and characterization of a CRISPR/Cas9-mediated RAG1 knockout chicken model lacking mature B and T cells. Front Immunol 13:892476, 2022. Pubmed reference: 36032098. DOI: 10.3389/fimmu.2022.892476.

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  • Created by Imke Tammen on 19 Oct 2026