Phenotypes Associated with This Genotype

Genotype
MGI:3813927

• Allelic Composition: Pts^tm1Ich/Pts^tm1Ich; Tg(DBH-PTS)6Csic/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

nervous system

abnormal nervous system physiology ( J:138968 )

• 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

abnormal neuron physiology ( J:138968 )

• responses to stimulation with a dopamine agonist suggest dopaminergic hypersensitivity in the striatum particularly in the striosomes

behavior/neurological

limb grasping ( J:138968 )

• first detected at 2 weeks of age

dystonia ( J:138968 )

• results suggest mice display hypokinetic hindlimb dystonia

impaired balance ( J:138968 )

• in balance beam tests mice are slower and make more foot slips

muscle

dystonia ( J:138968 )

• results suggest mice display hypokinetic hindlimb dystonia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dystonia		DOID:543	OMIM:PS128100	J:138968