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Phenotypes Associated with This Genotype
Genotype
MGI:3587816
Allelic
Composition
Pahenu3/Pahenu3
Genetic
Background
involves: BTBR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pahenu3 mutation (0 available); any Pah mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• serum phenylalanine levels elevated 10-20X on a normal diet
• phenylketones in urine greatly elevated
• animals sicken after a few days on elevated phenylalanine (in drinking water)

growth/size/body
• small heads
• grow slowly as compared to controls

behavior/neurological
• tend to topple over while grooming themselves
• uncoordinated in swim tests

pigmentation
• beginning at 2 weeks and worsening until 5-6 weeks of age

reproductive system
• average litter size at birth normal but pups die within a few hour
• survival improves when cross fostered to a "wild-type" mother

renal/urinary system
• phenylketones in urine greatly elevated

Mouse Models of Human Disease
OMIM ID Ref(s)
Phenylketonuria; PKU 261600 J:13320


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
06/15/2016
MGI 6.04
The Jackson Laboratory