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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mfn2tm3Dcc
targeted mutation 3, David C Chan
MGI:3779081
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Mfn2tm1Dcc/Mfn2tm3Dcc involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779084
cn2
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm3Dcc/Mfn2+
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779090
cn3
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779091
cn4
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Wnt1-cre)11Rth/0
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779094
cn5
En1tm2(cre)Wrst/En1+
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779095
cn6
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779096
cn7
Gabra6tm2(cre)Wwis/Gabra6+
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779097
cn8
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(EIIa-cre)C5379Lmgd/0
involves: 129 * 129S4/SvJaeSor * Black Swiss * FVB/N MGI:3779092
cn9
Gt(ROSA)26Sortm1.1(CAG-COX8A/Dendra2)Dcc/Gt(ROSA)26Sor+
Mfn2tm3Dcc/Mfn2tm3Dcc
Slc6a3tm1.1(cre)Bkmn/Slc6a3+
involves: 129 * 129S6/SvEvTac * C57BL/6J * SJL/J MGI:5441517
cn10
Meox2tm1(cre)Sor/Meox2+
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm3Dcc/Mfn2+
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss MGI:3779087
cn11
Meox2tm1(cre)Sor/Meox2+
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss MGI:3779088
cn12
Meox2tm1(cre)Sor/Meox2+
Mfn1tm2Dcc/Mfn1+
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss MGI:3779089
cn13
Meox2tm1(cre)Sor/Meox2+
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss MGI:3779093


Genotype
MGI:3779084
cn1
Allelic
Composition
Mfn2tm1Dcc/Mfn2tm3Dcc
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• fibroblast derived from mutant animals exhibit Cre-dependent mitochondrial fragmentation
• loss of mtDNA nucleoids from a significant fraction of mitochondria




Genotype
MGI:3779090
cn2
Allelic
Composition
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm3Dcc/Mfn2+
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn1tm1Dcc mutation (0 available); any Mfn1 mutation (22 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (22 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• normal cerebella containing a uniform, unbroken Purkinje cell monolayer similar to that in wild-type mice at 9-week-old




Genotype
MGI:3779091
cn3
Allelic
Composition
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn1tm1Dcc mutation (0 available); any Mfn1 mutation (22 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (22 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• Purkinje cell death in 9 weeks-old mutant mice cerebella
• Purkinje cell dendrite attenuation in 9 weeks-old mutant mice cerebella

cellular
• decreased cytochrome C oxidase activity and increased succinate dehydrogenase activity in Purkinje cells of 9-weeks-old mutant mice indicating the electron transport chain dysfunction in mitochondria




Genotype
MGI:3779094
cn4
Allelic
Composition
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Wnt1-cre)11Rth/0
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
Tg(Wnt1-cre)11Rth mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant pups are born at appropriate Mendelian ratio
• after birth, about one third of mutant mice die on postnatal day 1
• all remaining mutant mice die by P17

behavior/neurological
• mice surviving beyond P1 cannot easily regain posture when placed on their backs
• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body
• mice surviving beyond P1 are severely runted, likely due to feeding problems secondary to their movement disorder

nervous system
• severe defect in postnatal cerebellar growth




Genotype
MGI:3779095
cn5
Allelic
Composition
En1tm2(cre)Wrst/En1+
Mfn2tm1Dcc/Mfn2tm3Dcc
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1tm2(cre)Wrst mutation (1 available); any En1 mutation (17 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant pups are born at appropriate Mendelian ratio
• after birth, about one third of mutant mice die on postnatal day 1
• all remaining mutant mice die by P17

behavior/neurological
• mice surviving beyond P1 cannot easily regain posture when placed on their backs
• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body
• mice surviving beyond P1 are severely runted, likely due to feeding problems secondary to their movement disorder

nervous system
• markedly higher levels of apoptosis in mutant cerebella as early as p6 and continuing through the second postnatal week
• widespread loss of Purkinje cell bodies py P15 resulting in reduction of the molecular layer
• Purkinje cell loss due to a degenerative process in mixed cerebellar cultures
• reduced growth and deterioration of Purkinje cell dendrite during the second postnatal week
• severe defect in postnatal cerebellar growth
• between P7 and P16, the mutant cerebellum reduces in size
• lobular organization and formation of the three cellular layers is relatively intact

cellular
• mitochondria in mutant Purkinje cells in mixed cerebellar cultures tend to cluster together in the cell body and do not enter the dendritic tracts
• markedly higher levels of apoptosis in mutant cerebella as early as p6 and continuing through the second postnatal week




Genotype
MGI:3779096
cn6
Allelic
Composition
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• a progressive decline in coordination and balance in rotarod test
• at 2 months of age, they begin to exhibit a slightly shaky gait
• mutants are indistinguishable from wild-type littermates first 2 mo

nervous system
• obvious neuro-degeneration of cerebella over time
• the dendrites and death of Purkinje cell bodies resulting in very few surviving Purkinje cells by 3 months
• essentially all Purkinje cells are gone at 6 months of age
• Purkinje cell dendrite attenuation in 9 weeks-old mutant mice cerebella
• by 3 months of age, the mutant cerebella are only 75% that of wild-type
• by 1 year of age, the overall cerebellar area of mutants has dropped to 50% of wild-type
• the greatest loss occurs in the molecular layer
• by 7 weeks, mutant axons show extensive torpedoes, focal swellings typical of many neuropathies

cellular
• ultrastructurally the mitochondria in mutant Purkinje cells shows dramatic defects in mitochondrial morphology, distribution, and cristae organization
• ecreased cytochrome C oxidase activity and increased succinate dehydrogenase activity in Purkinje cells of 9-weeks-old mutant mice indicating the electron transport chain dysfunction in mitochondria




Genotype
MGI:3779097
cn7
Allelic
Composition
Gabra6tm2(cre)Wwis/Gabra6+
Mfn2tm1Dcc/Mfn2tm3Dcc
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra6tm2(cre)Wwis mutation (2 available); any Gabra6 mutation (19 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• shows no defect in balance and coordination
• no anatomical abnormality in cerebella




Genotype
MGI:3779092
cn8
Allelic
Composition
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos die during mid-gestation similar to Mfn2tm1Dcc homozygous embryos




Genotype
MGI:5441517
cn9
Allelic
Composition
Gt(ROSA)26Sortm1.1(CAG-COX8A/Dendra2)Dcc/Gt(ROSA)26Sor+
Mfn2tm3Dcc/Mfn2tm3Dcc
Slc6a3tm1.1(cre)Bkmn/Slc6a3+
Genetic
Background
involves: 129 * 129S6/SvEvTac * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(CAG-COX8A/Dendra2)Dcc mutation (1 available); any Gt(ROSA)26Sor mutation (317 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
Slc6a3tm1.1(cre)Bkmn mutation (1 available); any Slc6a3 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants die around 6-7 weeks of age due to malnutrition; this is most likely due to difficulty accessing food and water in normal cages due to a rearing defect
• however, when mutants are supplied with hydrated gel packs and crushed pieces of regular chow, all mutants survive beyond 6 months of age, with a majority surviving past 1 year of age

growth/size/body
• mutants are significantly smaller than controls by 5 weeks of age
• mutants do not gain weight after 4 weeks of age

behavior/neurological
• mutants are hunched by 5 weeks of age
• severe rearing defect as early as 4 weeks of age
• treatment of mutants with L-DOPA alleviates the motor defects
• beginning at 4-5 weeks, mutants exhibit progressive bradykinesia
• mutants exhibit a decline in the speed of movement with age compared to controls
• mutants spend twice as much time inactive at 6-7 weeks of age as controls and by 8-11 weeks of age, this increases to 6-fold increase in inactive time
• mutants are hypoactive by 5 weeks of age
• at 4-5 weeks of age, mutants travel only 68% of the distance traveled by wild-type mice and by 8-11 weeks of age, the distance traveled reduces to 34% of wild-type, indicating an age-dependent decline in locomotive activity

nervous system
• loss of dopaminergic terminals in the striatum, with a 25% reduction in dopaminergic terminals at 3 weeks of age and 76% reduction by 8-10 weeks
• mutants exhibit loss of dopaminergic efferents to the striatum, with a 25% reduction in dopaminergic terminals at 3 weeks of age and a 76% reduction by 8-10 weeks of age
• however, projections to the nucleus accumbens and olfactory tubercle are protected and the dopaminergic terminals are moderately preserved at 11-14 weeks
• dopaminergic neurons remaining have smaller cell bodies and diminished neuronal processes
• dopaminergic neurons exhibit mitochondrial fragmentation and depletion
• retrograde degeneration of substantia nigra pars compacta dopaminergic neurons and to a lesser extent in the mesolimbic pathway
• progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit, with neuronal loss first seen at 10-12 weeks, when a 52% decrease in TH-positive neurons is seen
• some degeneration is also seen in the mesolimbic pathway, although a lesser extent than in the nigrostriatal circuit
• degeneration of dopaminergic neurons occurs in a stepwise manner, with initial defects at the axon terminals, followed 1-2 months later by degeneration of the cell bodies
• mutants show decreased mitochondrial transport along nerve processes

cellular
• dopaminergic neurons exhibit mitochondrial fragmentation and depletion

skeleton

Mouse Models of Human Disease
OMIM ID Ref(s)
Parkinson Disease, Late-Onset; PD 168600 J:188347




Genotype
MGI:3779087
cn10
Allelic
Composition
Meox2tm1(cre)Sor/Meox2+
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm3Dcc/Mfn2+
Genetic
Background
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2tm1(cre)Sor mutation (2 available); any Meox2 mutation (9 available)
Mfn1tm1Dcc mutation (0 available); any Mfn1 mutation (22 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (22 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3779088
cn11
Allelic
Composition
Meox2tm1(cre)Sor/Meox2+
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm1Dcc/Mfn2tm3Dcc
Genetic
Background
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2tm1(cre)Sor mutation (2 available); any Meox2 mutation (9 available)
Mfn1tm1Dcc mutation (0 available); any Mfn1 mutation (22 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (22 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3779089
cn12
Allelic
Composition
Meox2tm1(cre)Sor/Meox2+
Mfn1tm2Dcc/Mfn1+
Mfn2tm1Dcc/Mfn2tm3Dcc
Genetic
Background
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2tm1(cre)Sor mutation (2 available); any Meox2 mutation (9 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (22 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• after birth, about one third of mutant mice die on postnatal day 1
• mutant pups are born at appropriate Mendelian ratio
• mutant mice that survive the neonatal period die by P17

behavior/neurological
• mice surviving beyond P1 cannot easily regain posture when placed on their backs
• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body
• mice surviving beyond P1 are severely runted, likely due to feeding problems secondary to their movement disorder




Genotype
MGI:3779093
cn13
Allelic
Composition
Meox2tm1(cre)Sor/Meox2+
Mfn2tm1Dcc/Mfn2tm3Dcc
Genetic
Background
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2tm1(cre)Sor mutation (2 available); any Meox2 mutation (9 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (14 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice surviving beyond P1 cannot easily regain posture when placed on their backs
• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body
• mice surviving beyond P1 are severely runted, likely due to feeding problems secondary to their movement disorder

nervous system
• severe defect in postnatal cerebellar growth

mortality/aging
• after birth, about one third of mutant mice die on postnatal day 1
• mutant mice that survive the neonatal period die by P17
• mutant pups are born at appropriate Mendelian ratio





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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory