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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pink1tm1Aub
targeted mutation 1, Georg Auburger
MGI:3850370
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pink1tm1Aub/Pink1tm1Aub involves: 129S/SvEv MGI:3850371
cx2
Pink1tm1Aub/Pink1tm1Aub
Tg(Prnp-SNCA*A53T)AAub/Tg(Prnp-SNCA*A53T)AAub
involves: 129S/SvEv * FVB/N MGI:5604250


Genotype
MGI:3850371
hm1
Allelic
Composition
Pink1tm1Aub/Pink1tm1Aub
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pink1tm1Aub mutation (2 available); any Pink1 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• despite decreased dopamine levels, no loss of dopaminergic neurons is seen at 18 months of age
• unlike in Parkinson's disease patients, Lewy bodies are not detected in the brainstem and substantia nigra

behavior/neurological
N
• unlike in human patients with early stage sporadic Parkinson's disease, acoustic startle reflexes are not impaired
• 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
• weigh up to 19% less than controls at 1 year of age

cellular
N
• unlike in Drosophila pink1 null mutants, no defects in mitochondrial fission are detected
• decrease in ATP levels in dissociated neurons under basal conditions
• liver mitochondrial membrane potential shows a progressive age related reduction
• assays indicate age-related impairment in liver mitochondrial import reactions
• liver mitochondrial membrane potential shows a progressive age related reduction
• respiratory complex activity of purified liver mitochondria from 18 month old mice is significantly reduced compared to controls

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

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

mortality/aging
• 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




Genotype
MGI:5604250
cx2
Allelic
Composition
Pink1tm1Aub/Pink1tm1Aub
Tg(Prnp-SNCA*A53T)AAub/Tg(Prnp-SNCA*A53T)AAub
Genetic
Background
involves: 129S/SvEv * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pink1tm1Aub mutation (2 available); any Pink1 mutation (30 available)
Tg(Prnp-SNCA*A53T)AAub mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• reduction in vertical activity by 3 months of age
• reductions in horizontal activity by 3 months of age
• 25% of mice exhibit progressive hindlimb paralysis at ages greater than 1 year
• 16/60 mice older than one year exhibit flaccid paresis of the hindlimbs, progressing to full paraplegia
• reductions in stereotype movement counts by 3 months of age

mortality/aging
• 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
• protein aggregates with pSer129-SNCA, P62, and ubiquitin immunoreactivity appears as granular and thread-like in neuronal cytoplasm of neurons with extensions along neurites
• some neurites exhibit corkscrew morphology
• 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

skeleton
• 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





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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
01/24/2023
MGI 6.22
The Jackson Laboratory