OMIA:002653-9940 : Alpha1-3 N-acetyl-D-galactosaminyltransferase deficiency in Ovis aries (sheep)

Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 104175 (gene)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: GGTA1 deficiency

Species-specific description: McGregor et al. (2023) developed "genetically engineered sheep that, like humans, produce anti-Gal antibody" to create an animal model which detects "the immunologic incompatibility between the major xenogeneic antigen, galactose-α-1,3-galactose (Gal), which is present in all current commercial BHVs [biological heart valves], and patients who universally produce anti-Gal antibody." This phene includes references to studies involving 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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002653-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2023 McGregor, C.G.A., Byrne, G.W., Fan, Z., Davies, C.J., Polejaeva, I.A. :
Genetically engineered sheep: A new paradigm for future preclinical testing of biological heart valves. J Thorac Cardiovasc Surg 166:S0022-5223(23)00162-9:e142-e152, 2023. Pubmed reference: 36914518. DOI: 10.1016/j.jtcvs.2023.02.007.

Edit History

  • Created by Imke Tammen2 on 18 Mar 2023
  • Changed by Imke Tammen2 on 18 Mar 2023
  • Changed by Imke Tammen2 on 18 Dec 2023