Phenylketonuria/Hyperphenylalaninemia Models

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Wild Mouse 750
Wild Mouse 750
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huPBMC-NCGhuHSC-NCG-XhuHSC-NCG-hIL15huHSC-NCG
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Wild Mouse 765
Wild Mouse 765

Phenylketonuria (PKU; MIM #261600), one of the most common inborn errors of metabolism (IEM), has an incidence rate of about 1 in 10,000. Caused by autosomal recessive mutations in the phenylalanine hydroxylase (PAH) gene, PKU leads to elevated phenylalanine (Phe) levels in plasma and urine. In classic PKU, the most severe form, blood Phe levels can exceed 1,200 µmol/L, far higher than the normal 120 µmol/L in healthy people. For moderate and mild PKU, Phe levels range from 900 - 1,200 µmol/L and 600 - 900 µmol/L respectively, while in non - PKU mild hyperphenylalaninemia, Phe levels are between 120 - 600 µmol/L.

 

● Genetically Engineered Phenylketonuria Mouse Models

Strain No.
 Strain Name Strain Type Description
T054129 B6-Pah-R243Q Point mutation B6-Pah-R243Q homozygous mice display reduced PAH protein expression in the liver and kidney at 8 weeks of age, indicating that the allele is hypomorphic. Plasma phenylalanine of B6-Pah-R243Q homozygous mice ranges from 120 to 250 μM and is significantly increased compared with wildtype littermates
T011802 Pah-KO Knock-out Pah-KO homozygous mice are continuously fed with low-phenylalanine diet for 19 weeks, followed by switching to regular diet. After discontinuation of the low-phenylalanine diet, the serum phenylalanine levels in Pah-KO homozygous mice reach 1600 μM, consistent with a severe phenylketonuria-like phenotype