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).

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