Phenotypes Associated with This Genotype

Genotype
MGI:3603037

• Allelic Composition: Tg(Prnp-SNCA*A53T)83Vle/0
• Genetic Background: involves: C3H * C57BL/6

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:76657 , J:127923 )

• develop the severe and complex motor impairment leading to paralysis and death that is seen in homozygous transgenics, however onset is delayed from 16 months of age to 22-28 months of age (J:76657)

nervous system

abnormal nervous system morphology ( J:76657 , J:127923 )

• develop a similar neurodegenerative disease that is observed in homozygous transgenic mice, however onset is delayed from 16 months of age to 22-28 months of age (J:76657)

• mice develop some inclusions that are composed of both tau and alpha-synuclein (J:127923)

tau protein deposits ( J:127923 )

• about 25% of diseased mutants accumulate abundant tau-positive threads, grains and spheroids in regions of the pons, midbrain, and spinal core

• rare perikaryal tau inclusions with morphology of a pre-tangle are seen

• less frequent tau inclusions are present in another 25% of symptomatic mutants but none are seen in the rest 50% of diseased mutants

alpha-synuclein inclusion body ( J:127923 )

• mice exhibit formation of abundant alpha-synuclein inclusions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 1		DOID:0060367	OMIM:168601	J:76657