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Phenotypes Associated with This Genotype
Genotype
MGI:3813927
Allelic
Composition
Ptstm1Ich/Ptstm1Ich
Tg(DBH-PTS)6Csic/0
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptstm1Ich mutation (1 available); any Pts mutation (1 available)
Tg(DBH-PTS)6Csic mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• striatal tyrosine hydroxylase expression is markedly reduced in the caudoputamen and in the lateral part of the olfactory tubercle but not in the nucleus accumbens
• loss of tyrosine hydroxylase expression results from progressive postnatal loss of expression and failure to increase expression with maturation
• responses to stimulation with a dopamine agonist suggest dopaminergic hypersensitivity in the striatum particularly in the striosomes

behavior/neurological
• first detected at 2 weeks of age
• in balance beam tests mice are slower and make more foot slips
• results suggest mice display hypokinetic hindlimb dystonia

muscle
• results suggest mice display hypokinetic hindlimb dystonia

Mouse Models of Human Disease
OMIM ID Ref(s)
Dystonia, Dopa-Responsive; DRD 128230 J:138968


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
05/17/2016
MGI 6.03
The Jackson Laboratory