Phenotypes Associated with This Genotype

Genotype
MGI:5824306

• Allelic Composition: Tg(PDGFB-SNCA/EGFP)78Ema/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

cellular

abnormal lysosome morphology ( J:238692 )

• neurons in the frontal cortex and hippocampus contain abundant electro-dense bodies associated with vacuolar structures, and contain abundant enlarged lysosomes containing single or multiple electro-dense granular structures

nervous system

abnormal synaptic bouton morphology ( J:238692 )

• about 25% decrease in the levels of synaptophysin-immunoreactive presynaptic terminals in the deep layers of the neocortex and the CA2 and CA1 regions of the hippocampus

abnormal dendrite morphology ( J:238692 )

• about 25% decrease in the levels of MAP2-immunoreactive dendritic processes in the deep layers of the neocortex and the CA2 and CA1 regions of the hippocampus

alpha-synuclein inclusion body ( J:238692 )

• alpha-synuclein accumulates in larger intracytoplasmic LB-like inclusions as well as in discrete granular structures

• the granular alpha-synuclein aggregates colocalize with the lysosomal marker cathepsin D, indicating lysosomal localization

• enlarged, irregular, vacuolar autophagosomal structures have abundant human alpha-synuclein

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Lewy body dementia		DOID:12217	OMIM:127750	J:238692
Parkinson's disease 1		DOID:0060367	OMIM:168601	J:238692