Animal Health

Discovery and Use of a Natural Mutation that Results in Severe Combined Immuno Deficiency in Pigs

  • Emily H. Waide (Iowa State University)
  • Christopher K. Tuggle (Iowa State University)
  • N. Matthew Ellinwood (Iowa State University)
  • Jason W. Ross (Iowa State University)
  • Nicholas J. Boddicker (Iowa State University)
  • Dinesh M. Thekkoot (Iowa State University)
  • Jennifer M. Young orcid logo (Iowa State University)
  • Elizabeth M. Snella (Iowa State University)
  • Sam Ho (Gift of Life Michigan)
  • Raymond Rowland (Kansas State University)
  • Carol Wyatt (Kansas State University)
  • Hui He (Kansas State University)
  • Jack C. M. Dekkers (Iowa State University)


Piglets from the low residual feed intake (RFI) line at ISU were found to be affected with a lethal autosomal recessive mutation that causes Severe Combined Immunodeficiency (SCID). Bone marrow allotransplantation rescued the immune deficiency in four of nine attempted transfers; the other five exhibited signs of severe graft versus host disease and were euthanized. A genome wide association study identified a 5.6 Mb region that contained the causative mutation. Affected haplotypes were traced back to the founders of the RFI population, who were sourced from the purebred Yorkshire population. The SCID pigs will be useful as a biomedical model, as pigs are anatomically and genetically more similar to humans than SCID mice, which are now widely used. Development of a genetic test for the causative mutation will be valuable to the swine industry, allowing breeders to identify carriers.

Keywords: ASL R2755

How to Cite:

Waide, E. H., Tuggle, C. K., Ellinwood, N., Ross, J. W., Boddicker, N. J., Thekkoot, D. M., Young, J. M., Snella, E. M., Ho, S., Rowland, R., Wyatt, C., He, H. & Dekkers, J. C., (2013) “Discovery and Use of a Natural Mutation that Results in Severe Combined Immuno Deficiency in Pigs”, Iowa State University Animal Industry Report 10(1). doi:

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Published on
01 Jan 2013