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Phenotypes Associated with This Genotype
Genotype
MGI:3774594
Allelic
Composition
Sprtm1Lex/Sprtm1Lex
Genetic
Background
involves: 129S/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sprtm1Lex mutation (1 available); any Spr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die between 3 and 4 weeks of age with some mice surviving until week 13
• fewer than expected mice are born

homeostasis/metabolism
• liver phenylalanine levels are decreased compared to in wild-type mice
• dopamine, noradrenaline and a serotonin levels are decreased 20% compared to in wild-type mice
• dopamine, noradrenaline and a serotonin levels are decreased 20% compared to in wild-type mice
• biopterin levels are undetectable unlike in wild-type mice
• pterin levels are increased in the brain
• dihydrobiopterin levels are decreased in the liver
• neopterin levels are increased in the brain, liver and kidney compared to in wild-type mice
• dopamine, noradrenaline and a serotonin levels are decreased 20% compared to in wild-type mice

behavior/neurological
• after weaning mice exhibit tremor-like symptoms in their forelegs and bradykinesia
• young mice and post-weaning mice exhibit bradykinesia

growth/size/body
• mice weigh 30% less than wild-type

nervous system
• dopamine, noradrenaline and a serotonin levels are decreased 20% compared to in wild-type mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Parkinson Disease 3, Autosomal Dominant; PARK3 602404 J:131376


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
05/24/2016
MGI 6.04
The Jackson Laboratory