Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230740 (trait) , 606410 (gene)

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: no

Year key variant first reported: 2022

Species-specific name: This phene was created by CRISPR/Cas9 genome editing, i.e. affected pigs are genetically-modified organisms (GMO)

Species-specific description: Chen et al. (2022): "the role of ANTXR1 as a receptor for SVA [Senecavirus A (SVA), the cause of vesicular disease] in pigs was investigated by CRISPR/Cas9 genome editing. Strikingly, ANTXR1 knockout (KO) pigs exhibited features consistent with the rare disease, GAPO syndrome, in humans. ... During an SVA challenge, clinical symptoms, including vesicular lesions, and circulating viremia were present in infected WT pigs but were absent in KO pigs. Additional ANTXR1-edited piglets were generated that were homozygous for an in-frame (IF) mutation. While IF pigs presented a GAPO phenotype similar to the KO pigs, ... and circulating SVA nucleic acid was decreased in IF compared to WT pigs. Thus, this new ANTXR1 mutation resulted in decreased permissiveness of SVA in pigs."

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: