Introduction
Phenylketonuria (PKU) is an autosomal recessive rare genetic disorder caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene, leading to congenital abnormalities in phenylalanine (Phe) metabolism. Animal models can be used for corresponding mechanistic studies and to explore more potential innovative therapeutic strategies for rare diseases.
Disease models
The SMOC has independently constructed Pah gene knockout mouse models and Pah gene point mutation mouse models, which are suitable for mechanistic studies of the disease and related drug development.
Fig1. Phenotype of Pah-KO mice model.
Fig2. Phenotype of Pah-R408W mice model.
