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

Categories: Immune system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 104175 (gene)

Links to MONDO diseases: No links.

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).


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 :, 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