Phenotypes Associated with This Genotype

Genotype
MGI:5471365

• Allelic Composition: Atg7^tm1Tchi/Atg7^tm1Tchi; Slc6a3^tm1(cre)Xz/Slc6a3⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6NCrlj * CBA/JNCrlj

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

behavior/neurological

hyperactivity ( J:192452 )

• mice are more active during the wake cycle than controls at 7 months of age but this difference is no longer significant at 12 months of age

homeostasis/metabolism

decreased dopamine level ( J:192452 )

• mice exhibit an age dependent decrease in striatal dopamine content in the brain, with a 55.5% reduction by 7-9 months of age compared to controls

nervous system

abnormal substantia nigra pars compacta morphology ( J:192452 )

• 40% loss of substantia nigra pars compacta dopamine neurons by 7-9 months of age

abnormal neuron morphology ( J:192452 )

• neuronal inclusions are present in the substantia nigra pars compacta

• inclusions are often perinuclear but are also in the neuropil and are positive for ubiquitin

• neuronal inclusions are present in juveniles but are smaller in size than at older ages

neuron degeneration ( J:192452 )

• 40% loss of substantia nigra pars compacta dopamine neurons by 7-9 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease		DOID:14330	OMIM:PS168600	J:192452