Phenotypes Associated with This Genotype

Genotype
MGI:3757843

• Allelic Composition: Tg(Th-SNCA*)1702Yosh/0
• Genetic Background: involves: C3H * C57BL/6J

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

behavior/neurological

bradykinesia ( J:125149 )

• both diurnal and nocturnal spontaneous locomotor activities are reduced compared to controls; significant recovery is seen upon injection of 150 mg/kg of dopamine precursor L-DOPA, whereas this dose does not affect non-transgenic controls

nervous system

decreased dopaminergic neuron number ( J:125149 )

• ~45% of dopaminergic neurons in the substantia nigra pars compacta, SNc, with the lateral part particularly affected, compared to non-transgenic littermates at 8 weeks of age or in transgnic mice expressing full-length mutant alpha-synuclein; considerable loss of neuronal cell bodies in the SNc region is observed

• no loss is observed in the ventral tegmental area, VTA

• loss is stable and no increased loss is seen to 52 weeks of age

abnormal neurite morphology ( J:125149 )

• tyrosine hydroxylase-positive, TH+, neurites are markedly impaired in striatum of mutants

homeostasis/metabolism

decreased dopamine level ( J:125149 )

• striatal dopamine, DA, and the dopamine metabolite homovanillic acid, HVA are reduced to ~49% and ~52% relative to controls; content of another metabolite, DOPAC, is reduced similarly in 8 week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 1		DOID:0060367	OMIM:168601	J:125149