Phenotypes Associated with This Genotype

Genotype
MGI:3757750

• Allelic Composition: Prkn^tm1Roo/Prkn^tm1Roo
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

premature death ( J:125148 )

• null mice have increased mortality risk, displaying early onset of mortality and more rapid decline after 12 months of age

behavior/neurological

abnormal posture ( J:125148 )

abnormal tail movements ( J:125148 )

• mutants display dystonic tails

abnormal locomotor activation ( J:125148 )

• aged mice show dyskinesia and a tendency to reduced mobility

short stride length ( J:125148 )

• significant shortening of hind-limb stride length relative to controls

nervous system

increased neuron apoptosis ( J:125148 )

decreased substantia nigra size ( J:125148 )

• aged mice show reduction in area of substantia nigra

tau protein deposits ( J:125148 )

• in aged mice, soluble and sarkosyl insoluble tau levels are increased 200% in striatum compared to age-matched controls; tau levels are elevated in cerebral cortex

• tau immunoreactive clusters of dystrophic neurites are increased in hippocampi of 22-month old null animals

• in cultured neurons from aged mice, tau accumulation in neuritic varicosities and perinuclear areas results in disruption of neuronal axons; tau accumulation is higher than in wild-type

loss of dopaminergic neurons ( J:125148 )

• ~35% loss of dopaminergic (tyrosine hydroxylase +ve) neurons in substantia nigra relative to controls or young Park2-null mice

neuron degeneration ( J:125148 )

• cortical neuron degeneration is observed in aged mice

hippocampal neuron degeneration ( J:125148 )

• seen in aged mice

respiratory system

abnormal respiratory function ( J:125148 )

• postural abnormalities cause respiratory problems

skeleton

kyphosis ( J:125148 )

• dorsal kyphosis

integument

alopecia ( J:125148 )

• focal alopecia observed in aged mice

cellular

increased neuron apoptosis ( J:125148 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 2		DOID:0060368	OMIM:600116	J:125148