All Phenotypes Prkn<tm1Shn> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prkn^tm1Shn/Prkn^tm1Shn	B6.129S4-Prkn^tm1Shn/J	MGI:5488759
hm2	Prkn^tm1Shn/Prkn^tm1Shn	involves: 129S4/SvJae	MGI:2681434
cx3	Gpx1^tm1Ysh/Gpx1^tm1Ysh Prkn^tm1Shn/Prkn^tm1Shn Park7^tm1Shn/Park7^tm1Shn	B6.Cg-Park7^tm1Shn Gpx1^tm1Ysh Prkn^tm1Shn	MGI:5527284
cx4	Prkn^tm1Shn/Prkn^tm1Shn Park7^tm1Shn/Park7^tm1Shn	B6.Cg-Park7^tm1Shn Prkn^tm1Shn	MGI:5527290
cx5	Prkn^tm1Shn/Prkn^tm1Shn Slc6a3^tm4.1(tTA)Xz/? Tg(tetO-SNCA*A53T)E2Cai/?	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6	MGI:5619814

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

cellular

abnormal mitochondrial morphology ( J:193741 )

• 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

decreased mitochondrial size ( J:193741 )

• mitochondria in the heart are smaller but have normal respiratory capacity

abnormal autophagy ( J:193741 )

• myocytes treated with rotenone, a mitochondrial complex I inhibitor, do not show an increase in autophagy as in wild-type myocytes

abnormal mitophagy ( J:193741 )

• 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

increased sensitivity to induced cell death ( J:193741 , J:194987 )

• isolated myocytes are more susceptible to hypoxia-induced cell death (J:193741)

• in MPP+ treated mouse embryonic fibroblasts (J:194987)

abnormal mitochondrial physiology ( J:193741 )

• 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

abnormal response to cardiac infarction ( J:193741 )

• 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

decreased body size ( J:193741 )

homeostasis/metabolism

abnormal response to cardiac infarction ( J:193741 )

abnormal autophagy ( J:193741 )

• myocytes treated with rotenone, a mitochondrial complex I inhibitor, do not show an increase in autophagy as in wild-type myocytes

abnormal mitophagy ( J:193741 )

• 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

increased susceptibility to induced morbidity/mortality ( J:193741 )

• 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

impaired coordination ( J:202221 )

• 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

Allelic Composition	Prkn^tm1Shn/Prkn^tm1Shn
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkn^tm1Shn mutation (3 available); any Prkn mutation (54 available)

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

behavior/neurological

impaired coordination ( J:86377 )

• poorer performance in various measures of motor performance

• rotarod performance was normal

nervous system

abnormal nervous system electrophysiology ( J:86377 )

• higher currents are required in striatal neurons to trigger synaptic response

homeostasis/metabolism

increased dopamine level ( J:86377 )

• higher than normal levels of dopamine in the striatum

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

Allelic Composition	Gpx1^tm1Ysh/Gpx1^tm1Ysh Prkn^tm1Shn/Prkn^tm1Shn Park7^tm1Shn/Park7^tm1Shn
Genetic Background	B6.Cg-Park7^tm1Shn Gpx1^tm1Ysh Prkn^tm1Shn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gpx1^tm1Ysh mutation (2 available); any Gpx1 mutation (19 available)
Park7^tm1Shn mutation (2 available); any Park7 mutation (53 available)
Prkn^tm1Shn mutation (3 available); any Prkn mutation (54 available)

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

behavior/neurological

impaired coordination ( J:202221 )

• increased latency to fall (rotarod test) observed at 12 and 18 months of age as compared to controls

homeostasis/metabolism

increased dopamine level ( J:202221 )

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

increased serotonin level ( J:202221 )

• striatal serotonin levels are increased at 12 months of age, however, serotonin turnover is similar to controls

Allelic Composition	Prkn^tm1Shn/Prkn^tm1Shn Park7^tm1Shn/Park7^tm1Shn
Genetic Background	B6.Cg-Park7^tm1Shn Prkn^tm1Shn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Park7^tm1Shn mutation (2 available); any Park7 mutation (53 available)
Prkn^tm1Shn mutation (3 available); any Prkn mutation (54 available)

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

behavior/neurological

impaired coordination ( J:202221 )

• 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

increased serotonin level ( J:202221 )

• striatal serotonin levels are increased at 12 and 18 months of age

• hippocampal serotonin levels are increased in 15 months old mice

Allelic Composition	Prkn^tm1Shn/Prkn^tm1Shn Slc6a3^tm4.1(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:
Prkn^tm1Shn mutation (3 available); any Prkn mutation (54 available)
Slc6a3^tm4.1(tTA)Xz mutation (1 available); any Slc6a3 mutation (66 available)
Tg(tetO-SNCA*A53T)E2Cai mutation (1 available)

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

nervous system

neuronal cytoplasmic inclusions ( J:218892 )

• "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

abnormal mitochondrial morphology ( J:218892 )

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

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