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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Prkntm1Shn
targeted mutation 1, Jie Shen
MGI:2681404
Summary 5 genotypes


Genotype
MGI:5488759
hm1
Allelic
Composition
Prkntm1Shn/Prkntm1Shn
Genetic
Background
B6.129S4-Prkntm1Shn/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkntm1Shn mutation (2 available); any Prkn mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• mitochondria in 12 week old mutant hearts are more disorganized and often found in large clusters with many small, round mitochondria
• following myocardial infarction, mitochondria in myocytes in the border zone are swollen and show severe cristae remodeling
• mitochondria in the heart are smaller but have normal respiratory capacity
• myocytes treated with rotenone, a mitochondrial complex I inhibitor, do not show an increase in autophagy as in wild-type myocytes
• following myocardial infarction, mitophagy is impaired in the border zone of the infarct, but not in remote zones
• myocytes treated with rotenone, a mitochondrial complex I inhibitor, do not show an increase in mitophagy as in wild-type myocytes
• isolated myocytes are more susceptible to hypoxia-induced cell death (J:193741)
• in MPP+ treated mouse embryonic fibroblasts (J:194987)
• mitochondria isolated from the border zones and subjected to 4 hours of myocardial infarction, have lower oxygen consumption rates than mitochondria from remote zones

cardiovascular system
• mutants exhibit increased sensitivity to myocardial infarction, with about 60% mortality within the first week compared to about 20% for wild-type mice and show severe thinning of left ventricular wall, enlarged left ventricle interior dimensions, and increased remodeling compared to wild-type
• 7 days following myocardial infarction, surviving mutants exhibit lower fractional shortening and ejection fractions, increased left ventricular end diastolic and systolic dimensions, and increased left ventricular volume, indicating impaired recovery after infarction

growth/size/body

homeostasis/metabolism
• mutants exhibit increased sensitivity to myocardial infarction, with about 60% mortality within the first week compared to about 20% for wild-type mice and show severe thinning of left ventricular wall, enlarged left ventricle interior dimensions, and increased remodeling compared to wild-type
• 7 days following myocardial infarction, surviving mutants exhibit lower fractional shortening and ejection fractions, increased left ventricular end diastolic and systolic dimensions, and increased left ventricular volume, indicating impaired recovery after infarction
• myocytes treated with rotenone, a mitochondrial complex I inhibitor, do not show an increase in autophagy as in wild-type myocytes
• following myocardial infarction, mitophagy is impaired in the border zone of the infarct, but not in remote zones
• myocytes treated with rotenone, a mitochondrial complex I inhibitor, do not show an increase in mitophagy as in wild-type myocytes

mortality/aging
• mutants exhibit increased sensitivity to myocardial infarction, with about 60% mortality within the first week compared to about 20% for wild-type mice

behavior/neurological
• trained mutant mice remain on rotarod longer than trained wild type at 5, 10, and 15 rpm, but 20 rpm and spend less time "distracted" while on the rod




Genotype
MGI:2681434
hm2
Allelic
Composition
Prkntm1Shn/Prkntm1Shn
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkntm1Shn mutation (2 available); any Prkn mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• poorer performance in various measures of motor performance
• rotarod performance was normal

nervous system
• higher than normal levels of dopamine in the striatum
• higher currents are required in striatal neurons to trigger synaptic response

homeostasis/metabolism
• higher than normal levels of dopamine in the striatum

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive juvenile Parkinson's disease 2 DOID:0060368 OMIM:600116
J:86377




Genotype
MGI:5527284
cx3
Allelic
Composition
Gpx1tm1Ysh/Gpx1tm1Ysh
Prkntm1Shn/Prkntm1Shn
Park7tm1Shn/Park7tm1Shn
Genetic
Background
B6.Cg-Park7tm1Shn Gpx1tm1Ysh Prkntm1Shn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpx1tm1Ysh mutation (2 available); any Gpx1 mutation (17 available)
Park7tm1Shn mutation (2 available); any Park7 mutation (46 available)
Prkntm1Shn mutation (2 available); any Prkn mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• increased latency to fall (rotarod test) observed at 12 and 18 months of age as compared to controls

homeostasis/metabolism
• striatal dopamine levels are significantly elevated at 6, 12 and 18 months of age, however, dopamine turnover is similar to controls
• striatal serotonin levels are increased at 12 months of age, however, serotonin turnover is similar to controls

nervous system
• striatal dopamine levels are significantly elevated at 6, 12 and 18 months of age, however, dopamine turnover is similar to controls
• striatal serotonin levels are increased at 12 months of age, however, serotonin turnover is similar to controls




Genotype
MGI:5527290
cx4
Allelic
Composition
Prkntm1Shn/Prkntm1Shn
Park7tm1Shn/Park7tm1Shn
Genetic
Background
B6.Cg-Park7tm1Shn Prkntm1Shn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Park7tm1Shn mutation (2 available); any Park7 mutation (46 available)
Prkntm1Shn mutation (2 available); any Prkn mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• striatal serotonin levels are increased at 12 and 18 months of age
• hippocampal serotonin levels are increased in 15 months old mice

behavior/neurological
• increased latency to fall (rotarod test) observed at 6, 12, 13, 16 and 18 months of age as compared to controls
• trained mutant mice remain on rotarod longer than trained wild type at all speeds tested (5, 10, 15 and 20 rpm) and spend less time "distracted" while on the rod

homeostasis/metabolism
• striatal serotonin levels are increased at 12 and 18 months of age
• hippocampal serotonin levels are increased in 15 months old mice




Genotype
MGI:5619814
cx5
Allelic
Composition
Prkntm1Shn/Prkntm1Shn
Slc6a3tm4.1(tTA)Xz/?
Tg(tetO-SNCA*A53T)E2Cai/?
Genetic
Background
involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkntm1Shn mutation (2 available); any Prkn mutation (27 available)
Slc6a3tm4.1(tTA)Xz mutation (1 available); any Slc6a3 mutation (47 available)
Tg(tetO-SNCA*A53T)E2Cai mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• "mitochondrial inclusions are observed in in dopaminergic neurons beginning at 3 weeks of age
• inclusions average 4.4 um in diameter and are labeled by mitochondrial markers (COX1, SOD2)
• number of inclusions is approximately 1.7 inclusions per dopaminergic neuron

cellular
• 57% reduction of mitochondrial mass at 3 weeks of age





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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory