Phenotypes Associated with This Genotype

Genotype
MGI:3774594

• Allelic Composition: Spr^tm1Lex/Spr^tm1Lex
• Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

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

mortality/aging

premature death ( J:131376 )

• most mice die between 3 and 4 weeks of age with some mice surviving until week 13

prenatal lethality, incomplete penetrance ( J:131376 )

• fewer than expected mice are born

homeostasis/metabolism

decreased phenylalanine level ( J:131376 )

• liver phenylalanine levels are decreased compared to in wild-type mice

decreased dopamine level ( J:131376 )

• brain dopamine levels are decreased to 20% of those in wild-type mice

decreased noradrenaline level ( J:131376 )

• brain noradrenaline levels are decreased to 20% of those in wild-type mice

abnormal biopterin level ( J:131376 )

• biopterin levels are undetectable unlike in wild-type mice

• pterin levels are increased in the brain

• dihydrobiopterin levels are decreased in the liver

abnormal neopterin level ( J:131376 )

• neopterin levels are increased in the brain, liver and kidney compared to in wild-type mice

decreased serotonin level ( J:131376 )

• brain serotonin levels are decreased to 20% of those in wild-type mice

behavior/neurological

tremors ( J:131376 )

• after weaning mice exhibit tremor-like symptoms in their forelegs and bradykinesia

decreased locomotor activity ( J:131376 )

bradykinesia ( J:131376 )

• young mice and post-weaning mice exhibit bradykinesia

growth/size/body

decreased body weight ( J:131376 )

• mice weigh 30% less than wild-type

postnatal growth retardation ( J:131376 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease		DOID:14330	OMIM:PS168600	J:131376