Mouse Genome Informatics
hm
    Pahenu3/Pahenu3
involves: BTBR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• grow slowly as compared to controls

craniofacial
• small heads

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 IDRef(s)
Phenylketonuria; PKU 261600 J:13320