Mouse Genome Informatics
hm
    Pahenu2/Pahenu2
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
• reduced 70% in the brain
• phenylketones in urine greatly elevated
• animals sicken after a few days on elevated phenylalanine (in drinking water)

growth/size
• body weights diverged from controls starting at week 1 and continuing through week 7 (J:66447)
• weight divergence as much as 30% (J:66447)

craniofacial
• small heads

behavior/neurological
• absence of latent learning
• odor discrimination learning was normal but reverse descrimination training was deficient
• 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 hours
• 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:38411