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Phenotypes Associated with This Genotype
Genotype
MGI:3757750
Allelic
Composition
Prkntm1Roo/Prkntm1Roo
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkntm1Roo mutation (0 available); any Prkn mutation (53 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• null mice have increased mortality risk, displaying early onset of mortality and more rapid decline after 12 months of age

behavior/neurological
• mutants display dystonic tails
• aged mice show dyskinesia and a tendency to reduced mobility
• significant shortening of hind-limb stride length relative to controls

nervous system
• aged mice show reduction in area of substantia nigra
• 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
• ~35% loss of dopaminergic (tyrosine hydroxylase +ve) neurons in substantia nigra relative to controls or young Park2-null mice
• cortical neuron degeneration is observed in aged mice
• seen in aged mice

respiratory system
• postural abnormalities cause respiratory problems

skeleton
• dorsal kyphosis

integument
• focal alopecia observed in aged mice

cellular

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory