Phenotypes Associated with This Genotype

Genotype
MGI:5573172

• Allelic Composition: Tg(Cnp-SNCA)M2Vle/Tg(Cnp-SNCA)M2Vle
• Genetic Background: involves: C3H * C57BL/6

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

behavior/neurological

impaired coordination ( J:99814 )

• mice show a decrease in endurance time on the rotarod treadmill test beginning at 7-9 months of age

decreased grip strength ( J:99814 )

• mice show a progressive reduction in grip strength on a wire hanging test with advancing age

abnormal locomotor activation ( J:99814 )

• slow motor activity

nervous system

decreased brain weight ( J:99814 )

• 8% and 16% reduction in brain weight at 9 and 24 months of age, respectively

abnormal brain white matter morphology ( J:99814 )

• reduction in the white matter in 24 month old mice

brain atrophy ( J:99814 )

• progressive brain atrophy, with mice showing an 8% and 16% reduction in brain weight at 9 and 24 months of age, respectively

• brain atrophy reflects a reduction in the neuropil and white matter

decreased oligodendrocyte number ( J:99814 )

• decrease in the number of oligodendroctyes at 24 months of age, indicating oligodendrocytic degeneration

• oligodendrocytes contain degraded myelin, extensive accumulations of lysosomes, fragmented myelin in the cytoplasm, suggesting autophagocytosis of degenerated myelin

gliosis ( J:99814 )

• in the brain and spinal cord

abnormal myelin sheath morphology ( J:99814 )

• degenerated myelin sheaths associated with degenerating axons in the CNS, most prominently in the spinal cord

decreased neuron number ( J:99814 )

• decrease in the number of neurons at 24 months of age, with neuronal loss most prominent in the lateral and medial columns of the spinal cord

neuron degeneration ( J:99814 )

• secondary neuronal degeneration as a consequence of oligodendrocytic cytoplasmic inclusions

• loss of neurons in the lateral and medial columns of the spinal cord

• loss of myelinated axons and sprouting of unmyelinated axons of spinal ventral roots, indicating neuronal degeneration in the anterior horn of spinal cord

abnormal spinal cord ventral horn morphology ( J:99814 )

• neuronal degeneration in the anterior horn of spinal cord

alpha-synuclein inclusion body ( J:99814 )

• mice exhibit alpha-synuclein fibrillar aggregates resembling glial cytoplasmic inclusions in oligodendroctyes and the neuropil

• accumulation of filamentous human alpha-synuclein aggregates in oligodendroctyes and in neuropil with increasing age

• endogenous mouse alpha-synuclein aggregates in normal and degenerating axons and axon terminals in association with oligodendroglia with a tubular ultrastructure

axon degeneration ( J:99814 )

• neuronal and axonal degeneration as indicated by a redistribution of highly phosphorylated high-molecular weight neurofilament subunit proteins from axons into neuronal perikarya, detection of axonal spheroids with RMO24 in the cortex, gliosis in the brain and spinal cord, and Gap43 immunoreactivity surrounding neuronal perikarya

demyelination ( J:99814 )

• demyelination of oligodendroctyes

mortality/aging

mortality/aging ( J:99814 )

N • life span is not affected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
multiple system atrophy		DOID:4752		J:99814