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Phenotypes Associated with This Genotype
Genotype
MGI:3813925
Allelic
Composition
Ptstm1Ich/Ptstm1Ich
Tg(DBH-PTS)6Csic/0
Genetic
Background
B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptstm1Ich mutation (1 available); any Pts mutation (2 available)
Tg(DBH-PTS)6Csic mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected females are found at weaning
• however, unlike homozygous mice without the transgene, mice survive past weaning

homeostasis/metabolism
• 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

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Dystonia, Dopa-Responsive; DRD 128230 J:102278


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
11/22/2016
MGI 6.06
The Jackson Laboratory