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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Park2tm1Roo
targeted mutation 1, Thomas A Rooney
MGI:2678247
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Park2tm1Roo/Park2tm1Roo either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6) MGI:2678248
hm2
Park2tm1Roo/Park2tm1Roo involves: 129S2/SvPas MGI:3757750
cn3
Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+
Park2tm1Roo/Park2tm1Roo
Slc6a3tm1(cre)Lrsn/Slc6a3+
Tfamtm1Lrsn/Tfamtm1Lrsn
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:5292517


Genotype
MGI:2678248
hm1
Allelic
Composition
Park2tm1Roo/Park2tm1Roo
Genetic
Background
either: 129S2/SvPas or (involves: 129S2/SvPas * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Park2tm1Roo mutation (0 available); any Park2 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• reduced amphetamine-induced motor activity

growth/size/body
• reduced body weight after weaning, both males and females

homeostasis/metabolism
• reduced rectal temperature relative to wild-type
• increased in the limbic brain areas
• increased levels of the MAO-derived metabolite, DOPAC, relative to COMT-derived metabolite, 3-MT, indicating an impairment of dopamine release

muscle
N
• no evidence of muscle degeneration

nervous system
N
• brain morphology, weight, and size were normal
• increased in the limbic brain areas
• increased levels of the MAO-derived metabolite, DOPAC, relative to COMT-derived metabolite, 3-MT, indicating an impairment of dopamine release
• inhibition of dopamine neurotransmission
• inhibition of glutamate neurotransmission
• normal levels of 5-HT and 5-HIAA in the striatum, limbic system, diencephalon, and brainstem

Mouse Models of Human Disease
OMIM ID Ref(s)
Parkinson Disease 2, Autosomal Recessive Juvenile; PARK2 600116 J:85561




Genotype
MGI:3757750
hm2
Allelic
Composition
Park2tm1Roo/Park2tm1Roo
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Park2tm1Roo mutation (0 available); any Park2 mutation (17 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
• aged mice show dyskinesia and a tendency to reduced mobility
• significant shortening of hind-limb stride length relative to controls
• mutants display dystonic tails

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
OMIM ID Ref(s)
Parkinson Disease 2, Autosomal Recessive Juvenile; PARK2 600116 J:125148




Genotype
MGI:5292517
cn3
Allelic
Composition
Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+
Park2tm1Roo/Park2tm1Roo
Slc6a3tm1(cre)Lrsn/Slc6a3+
Tfamtm1Lrsn/Tfamtm1Lrsn
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1Lrsn mutation (0 available); any Gt(ROSA)26Sor mutation (310 available)
Park2tm1Roo mutation (0 available); any Park2 mutation (17 available)
Slc6a3tm1(cre)Lrsn mutation (0 available); any Slc6a3 mutation (32 available)
Tfamtm1Lrsn mutation (0 available); any Tfam mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• YFP+ neurons exhibit one or more grossly enlarged, rounded mitochondria in the perinuclear region of the soma and in proximal segment of dendrites with some cells containing fragmented mitochondria and small, spherical mitochondrial clustered around the nucleus
• YFP+ neurons exhibit a progressive reduction in distal axonal mitochondrial numbers compared with control cells
• however, mitochondria in the distal dopamine axons are morphologically spared
• neurons exhibit less intense staining with a retrograde tracer (fluorogold) suggesting impaired retrograde transport and/or uptake of the tracer compared with control cells





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory