Phenotypes Associated with This Genotype

Genotype
MGI:5604250

• Allelic Composition: Pink1^tm1Aub/Pink1^tm1Aub; Tg(Prnp-SNCA*A53T)AAub/Tg(Prnp-SNCA*A53T)AAub
• Genetic Background: involves: 129S/SvEv * FVB/N

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

behavior/neurological

abnormal locomotor behavior ( J:214065 )

decreased vertical activity ( J:214065 )

• reduction in vertical activity by 3 months of age

decreased locomotor activity ( J:214065 )

• reductions in horizontal activity by 3 months of age

hindlimb paralysis ( J:214065 )

• 25% of mice exhibit progressive hindlimb paralysis at ages greater than 1 year

paresis ( J:214065 )

• 16/60 mice older than one year exhibit flaccid paresis of the hindlimbs, progressing to full paraplegia

decreased stereotypic behavior ( J:214065 )

• reductions in stereotype movement counts by 3 months of age

mortality/aging

premature death ( J:214065 )

• late onset increase in mortality rate at 450 days as compared to wild-type controls

• some mice develop a lethal motor deficit at greater than one year

nervous system

abnormal motor neuron morphology ( J:214065 )

• protein aggregates with pSer129-SNCA, P62, and ubiquitin immunoreactivity appears as granular and thread-like in neuronal cytoplasm of neurons with extensions along neurites

abnormal neurite morphology ( J:214065 )

• some neurites exhibit corkscrew morphology

alpha-synuclein inclusion body ( J:214065 )

• protein aggregates with pSer129-SNCA, P62 and ubiquitin immunoreactivity are observed in grey matter of lumbar spinal cord of paralyzed animals aged to 15-17 months

• aggregate pathology is milder in thoracic and cervical spinal cord

• immunoreactivity appears as granular and thread-like in neuronal cytoplasm of neurons with extensions along neurites

• protein aggregates are observed in non-paralyzed animals, but with little neurite pathology

• discrete lesions are found in motor cortex, but not striatum of paralyzed mice

• minimal lesions are found in ventral tegmental area of non-paralytic mice

• aggregate formation is found in non-dopaminergic neurons (NeuN-positive)

• no aggregate formation is found in dopaminergic neurons

neurodegeneration ( J:214065 )

skeleton

kyphosis ( J:214065 )

• 3/60 mice older than one year exhibit kyphosis, falls and rigidity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease		DOID:14330	OMIM:PS168600	J:214065