Phenotypes Associated with This Genotype

Genotype
MGI:5634093

• Allelic Composition: Tg(Mbp-SNCA)29Ema/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

mortality/aging

premature death ( J:102867 )

• premature death at 6 months of age

behavior/neurological

tremors ( J:102867 )

• mice develop tremors around 2-4 months of age

abnormal motor coordination/balance ( J:102867 )

• 4 month old mice show deficits in the pole test

ataxia ( J:102867 )

• mice develop ataxia around 2-4 months of age

impaired coordination ( J:102867 )

• 4 month old mice are impaired on the rotarod

abnormal sexual interaction ( J:102867 )

• mice breed at a slower rate

seizures ( J:102867 )

• mice exhibit seizure activity around 2-4 months of age

nervous system

seizures ( J:102867 )

• mice exhibit seizure activity around 2-4 months of age

abnormal corpus callosum morphology ( J:102867 )

• astrogliosis and alternations in axons and dendrites within the corpus callosum

loss of basal ganglia neurons ( J:102867 )

• 55% reduction in the density of TH+ fibers in the basal ganglia

abnormal neocortex morphology ( J:102867 )

• neurodegeneration in the neocortex, with mice showing a reduction in complexity of axonal and dendritic structures, mitochondrial abnormalities, and astrogliosis

astrocytosis ( J:102867 )

• astrogliosis in the corpus callosum and other white matter tracts and to a lesser extent in the neocortex and brainstem at 4 months of age

abnormal neurite morphology ( J:102867 )

• reduction in complexity of axonal and dendritic structures in the neocortex

abnormal axon morphology ( J:102867 )

• corpus callosum exhibits extensive axonal alternations in areas where alpha-synuclein inclusions are found, including decreased fiber density and formation of irregular and enlarged axons

• neurons in other brain regions, including basal ganglia, brainstem, and cerebellum show enlarged and irregular axons

abnormal dendrite morphology ( J:102867 )

• reduction in complexity of dendritic structures in the neocortex

• neurons in other brain regions, including basal ganglia, brainstem and cerebellum, show simplification of dendritic processes

alpha-synuclein inclusion body ( J:102867 )

• oligodendroglial cells within the white matter tracts in the corpus callosum contain fibrillary perinuclear inclusions surrounded by electrodense material

neurodegeneration ( J:102867 )

• neurodegeneration in the neocortex

• neurodegeneration in the white matter tracts and dendritic arbor of neurons at 4 months of age

• 55% reduction in the density of TH+ fibers in the basal ganglia

demyelination ( J:102867 )

• moderate demyelination of the pyramidal tracts in the spinal cord

• attenuation of myelin staining in the corpus callosum

cellular

abnormal mitochondrial morphology ( J:102867 )

• mitochondria within oligodendroglial cells and neuronal cells of the neocortex and cerebellum exhibit abnormalities, including increased size, crystalline-like inclusions, irregular crista, and accumulation of filaments around the mitochondria

abnormal mitochondrial crista morphology ( J:102867 )

• mitochondria within oligodendroglial cells and neuronal cells of the neocortex and cerebellum exhibit decreased crista

abnormal mitochondrial shape ( J:102867 )

• mitochondria within oligodendroglial cells and neuronal cells of the neocortex and cerebellum exhibit irregular shapes

increased mitochondrial size ( J:102867 )

• mitochondria within oligodendroglial cells and neuronal cells of the neocortex and cerebellum are increased in size

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
multiple system atrophy		DOID:4752		J:102867