Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Abstract excerpt

Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was developed via N-ethyl-N-nitrosourea (ENU) mutagenesis, mimicking the high brain Phe content seen in classic PKU patients. A large variety of behavioral tasks have been...

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