Phenotypes Associated with This Genotype

Genotype
MGI:3850371

• Allelic Composition: Pink1^tm1Aub/Pink1^tm1Aub
• Genetic Background: involves: 129S/SvEv

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

nervous system

nervous system phenotype ( J:150206 )

N • despite decreased dopamine levels, no loss of dopaminergic neurons is seen at 18 months of age

N • unlike in Parkinson's disease patients, Lewy bodies are not detected in the brainstem and substantia nigra

behavior/neurological

behavior/neurological phenotype ( J:150206 )

N • unlike in human patients with early stage sporadic Parkinson's disease, acoustic startle reflexes are not impaired

decreased locomotor activity ( J:150206 )

• decrease in total distance covered, horizontal activity, movement time, stereotypy count and center distance in an open field test beginning at 16 months of age

growth/size/body

decreased body weight ( J:150206 )

• weigh up to 19% less than controls at 1 year of age

cellular

cellular phenotype ( J:150206 )

N • unlike in Drosophila pink1 null mutants, no defects in mitochondrial fission are detected

abnormal cellular respiration ( J:150206 )

• decrease in ATP levels in dissociated neurons under basal conditions

• liver mitochondrial membrane potential shows a progressive age related reduction

abnormal mitochondrial physiology ( J:150206 )

• assays indicate age-related impairment in liver mitochondrial import reactions

abnormal respiratory electron transport chain ( J:150206 )

• liver mitochondrial membrane potential shows a progressive age related reduction

abnormal mitochondrial ATP synthesis coupled electron transport ( J:150206 )

• respiratory complex activity of purified liver mitochondria from 18 month old mice is significantly reduced compared to controls

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:150206 )

N • unlike in human patients with early stage sporadic Parkinson's disease, increased sweating is not seen

homeostasis/metabolism

decreased dopamine level ( J:150206 )

• decreased dopamine levels in the striatum at 9 and 22-24 months of age

mortality/aging

extended life span ( J:214065 )

• mortality rate is reduced as compared to wild-type controls

• most mice live to 450 days, some live to greater than 600 days

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 6		DOID:0060369	OMIM:605909	J:150206