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Phenotypes Associated with This Genotype
Genotype
MGI:3757644
Allelic
Composition
Sprtm1Spo/Sprtm1Spo
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sprtm1Spo mutation (0 available); any Spr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die 1 to 2 months after birth with remaining mice dying 2 to 6 months after birth

homeostasis/metabolism
• serum phenylalanine levels are increased (2732 uM compared to 63 uM in wild-type and heterozygous mice)
• however, phenylalanine levels can be rescued by oral administration of tetrahydrobiopterin
• insulin-like growth factor 1 levels are severely reduced compared to in wild-type mice
• dopamine levels are reduced 10-fold in the caudate putamen and cortex compared to in wild-type mice
• 3,4 dihydroxyphenylacetate (DOPAC) levels in the caudate putamen and cortex are below detectable limits unlike in wild-type mice
• norepinepherine levels in the cortex and cerebellum are reduced
• sepiapterin accumulation is observed in the brain and liver
• tetrahydrobiopterin levels are decreased in the brain (to 40.5% of wild-type levels) and liver (to 1.1% of wild-type levels)
• neopterin levels are increased moderately in the liver and brain by 3 and 5 times, respectively, as much as in wild-type mice
• serotonine levels in the cortex are reduced compared to in wild-type mice
• however, 5-hydroxyindoleacetic acid levels are normal

nervous system
• dopamine levels are reduced 10-fold in the caudate putamen and cortex compared to in wild-type mice
• 3,4 dihydroxyphenylacetate (DOPAC) levels in the caudate putamen and cortex are below detectable limits unlike in wild-type mice
• tyrosine hydrolase (TH) staining in dopaminergic cells gradually becomes faint along dopaminergic fibers and disappears in the caudate putamen unlike in wild-type mice
• almost no nerve fibers stain positive for TH in the striatum
• however, dopaminergic neurons are present
• brain levels of dopamine, norepinepherine and serotonine are reduced compared to in wild-type mice

growth/size/body
• within a few days of birth mice exhibit a severe growth retardation and gain almost no weight after 2 weeks of age
• however, growth retardation and other phenotypes (such as phenylalanine levels) can be rescued by oral administration of tetrahydrobiopterin

behavior/neurological
• mice score worse than wild-type mice on four-limb akinesia and turning tests


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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory