Phenotypes Associated with This Genotype

Genotype
MGI:6113412

• Allelic Composition: Pink1^tm1.1Wrst/Pink1^tm1.1Wrst; Tg(Prnp-SNCA*A53T)AAub/?
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/N

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

mortality/aging

premature death ( J:242309 )

• mice show a reduced life span

nervous system

abnormal dopaminergic neuron morphology ( J:242309 )

• nucleolar integrity is disrupted in dopaminergic neurons, with the percentage of TH+ dopaminergic neurons containing one nucleolus being lower in the substantia nigra and ventral tagmental area and an increase in the percentage of dopaminergic neurons showing no nucleolar staining

• number of dopaminergic neurons containing 2 or 3 nucleoli is higher

cellular

abnormal nucleolus morphology ( J:242309 )

• nucleolar integrity is disrupted in dopaminergic neurons, with the percentage of TH+ dopaminergic neurons containing one nucleolus being lower in the substantia nigra and ventral tagmental area and an increase in the percentage of dopaminergic neurons showing no nucleolar staining

• number of dopaminergic neurons containing 2 or 3 nucleoli is higher

abnormal cell physiology ( J:242309 )

• nucleolar activity is altered with downregulation in a subset of dopaminergic neurons while upregulation of rRNA synthesis is seen in another group of dopaminergic neurons suggesting initial compensatory mechanisms

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease		DOID:14330	OMIM:PS168600	J:242309