Mouse Genome Informatics

B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• fewer than expected females are found at weaning
• however, unlike homozygous mice without the transgene, mice survive past weaning

• injection of BH4 (20 mg/kg) results in a dramatic decrease in plasma phenylalanine level, a similar injection does not alter phenylalanine levels in controls
• biopterin content in the liver is about 0.1% of that in wild-type controls
• biopterin levels in the striatum are reduced while levels in the midbrain are closer to those in controls
• neopterin levels are increased to 2980 pmol/mg protein in the liver compared to undetectable levels in wild-type controls
• neopterin levels are elevated in the brain
• levels are low in the pons-medulla and hypothalamus

nervous system
• tyrosine hydroxylase activity is mildly decreased in the midbrain and more severely decreased in the striatum

• at 4 weeks of age, average body weight is about 56% that of controls

Mouse Models of Human Disease
Dystonia, Dopa-Responsive; DRD 128230 J:102278