Phenotypes Associated with This Genotype

Genotype
MGI:5300789

• Allelic Composition: Pah^enu2/Pah^enu2
• Genetic Background: BTBR-Pah^enu2/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

increased phenylalanine level ( J:178269 )

• mutants exhibit an increase in phenylalanine concentration in the cerebral cortex

increased NAD(P)H oxidase activity ( J:178269 )

• the cerebral cortex exhibits increased NADPH oxidase activity

nervous system

abnormal cerebral cortex morphology ( J:178269 )

• mutants exhibit an increase in phenylalanine concentration in the cerebral cortex

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
phenylketonuria		DOID:9281	OMIM:261600	J:178269