Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 261600 (trait) , 612349 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0009861: phenylketonuria

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: no

Species-specific symbol: PKU

Species-specific description: Koppes et al. (2020) "established a large-animal preclinical model of PKU to investigate pathophysiology and to assess new therapeutic interventions" by the use of CRISPR/Cas9 to create two mutations in the phenylalanine hydroxylase (PAH) gene: "One pig was heterozygous for a PAH exon 6 deletion allele, while the other was compound heterozygous for deletions of exon 6 and of exons 6-7 [of PAH]." Kaiser et al. (2021) also developed pigs with a causal PAH variant created via gene-editing. These animals are, therefore, 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

Associated gene: