Phenotypes Associated with This Genotype

Genotype
MGI:5471363

• Allelic Composition: Atg7^tm1Tchi/Atg7^tm1Tchi; En1^tm2(cre)Wrst/En1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6NCrlj * CBA/JNCrlj

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

mortality/aging

decreased survivor rate ( J:192452 )

• mice show a 76% reduction in survival by 1 year of age

premature death ( J:192452 )

• mice show a 76% reduction in survival by 1 year of age

growth/size/body

weight loss ( J:192452 )

behavior/neurological

tremors ( J:192452 )

• mice exhibit tremulousness

abnormal locomotor behavior ( J:192452 )

• mice show decreased locomotor activity

ataxia ( J:192452 )

abnormal gait ( J:192452 )

• mice exhibit a wide-based and ataxic gait

homeostasis/metabolism

decreased dopamine level ( J:192452 )

• mice exhibit an age dependent decrease in striatal dopamine content in the brain, with a 64.5% reduction by 7-9 months of age compared to controls

nervous system

abnormal brain morphology ( J:192452 )

• while alpha-synuclein inclusions are not seen, accumulation of low-molecular weight alpha-synuclein is seen in the brain

abnormal substantia nigra pars compacta morphology ( J:192452 )

• 60% loss of substantia nigra pars compacta dopamine neurons by 7-9 months of age

astrocytosis ( J:192452 )

• a modest increase in reactive astrocytes in the of substantia nigra pars compacta

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 )

• 60% loss of substantia nigra pars compacta dopamine neurons by 7-9 months of age

Purkinje cell degeneration ( J:192452 )

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