Phenotypes Associated with This Genotype

Genotype
MGI:3813925

• Allelic Composition: Pts^tm1Ich/Pts^tm1Ich; Tg(DBH-PTS)6Csic/0
• Genetic Background: B6.Cg-Pts^tm1Ich Tg(DBH-PTS)6Csic

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

preweaning lethality, incomplete penetrance ( J:102278 )

• fewer than expected females are found at weaning

• however, unlike homozygous mice without the transgene, mice survive past weaning

homeostasis/metabolism

decreased circulating phenylalanine level ( J:102278 )

• 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

abnormal biopterin level ( J:102278 )

• 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

abnormal neopterin level ( J:102278 )

• 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

decreased serotonin level ( J:102278 )

• serotonin levels are low in the pons-medulla and hypothalamus

nervous system

abnormal nervous system physiology ( J:102278 )

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

growth/size/body

decreased body weight ( J:102278 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dystonia		DOID:543	OMIM:PS128100	J:102278