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Phenotypes Associated with This Genotype
Genotype
MGI:5300789
Allelic
Composition
Pahenu2/Pahenu2
Genetic
Background
BTBR-Pahenu2/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pahenu2 mutation (3 available); any Pah mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mutants exhibit an increase in phenylalanine concentration in the cerebral cortex
• the cerebral cortex exhibits increased NADPH oxidase activity

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Phenylketonuria; PKU 261600 J:178269


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory