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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mfn2tm1Dcc
targeted mutation 1, David C Chan
MGI:2450306
Summary 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mfn2tm1Dcc/Mfn2tm1Dcc involves: 129S/SvEv MGI:3578770
cn2
Mfn2tm1Dcc/Mfn2tm3Dcc involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779084
cn3
Gabra6tm2(cre)Wwis/Gabra6+
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779097
cn4
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779091
cn5
Mfn2tm1Dcc/Mfn2tm3Dcc
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779094
cn6
En1tm2(cre)Wrst/En1+
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779095
cn7
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(Pcp2-cre)2Mpin/0
involves: 129 * 129S4/SvJaeSor * Black Swiss MGI:3779096
cn8
Mfn2tm1Dcc/Mfn2tm3Dcc
Tg(EIIa-cre)C5379Lmgd/0
involves: 129 * 129S4/SvJaeSor * Black Swiss * FVB/N MGI:3779092
cn9
Meox2tm1(cre)Sor/Meox2+
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss MGI:3779093
cn10
Meox2tm1(cre)Sor/Meox2+
Mfn1tm1Dcc/Mfn1tm2Dcc
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss MGI:3779088
cn11
Meox2tm1(cre)Sor/Meox2+
Mfn1tm2Dcc/Mfn1+
Mfn2tm1Dcc/Mfn2tm3Dcc
involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss MGI:3779089
cx12
Mfn1tm1Dcc/Mfn1tm1Dcc
Mfn2tm1Dcc/Mfn2tm1Dcc
involves: 129S/SvEv MGI:3578771


Genotype
MGI:3578770
hm1
Allelic
Composition
Mfn2tm1Dcc/Mfn2tm1Dcc
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Defective giant cell layer of Mfn2tm1Dcc/Mfn2tm1Dcc placenta

mortality/aging
• frequency of homozygous embryos normal up to E9.5
• 29% of homozygotes resorbed at E10.5
• 87% of homozygotes resorbed at E11.5

embryo
• embryos slightly smaller than littermates between E9.5 and E10.5 embryos slightly smaller than littermates between E9.5 and E10.5
• reduced numbers of trophoblast giant cells
• form an incomplete layer only one cell layer thick in placentas from E8.5-E10.5

cellular
• spherical or oval shaped mitochondria
• with cristae and a double membrane
• individual mitochondria functionally defective
• fewer mitochondrial fusion events observed
• mobility impaired secondary to abnormalities in shape

growth/size/body
• embryos slightly smaller than littermates between E9.5 and E10.5 embryos slightly smaller than littermates between E9.5 and E10.5




Genotype
MGI:3779084
cn2
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 (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 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:3779097
cn3
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 (39 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 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:3779091
cn4
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 (45 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (45 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 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
cn5
Allelic
Composition
Mfn2tm1Dcc/Mfn2tm3Dcc
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129 * 129S4/SvJaeSor * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 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
cn6
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 (34 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 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
• 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
• 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
cn7
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 (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 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
• ultrastructurally the mitochondria in mutant Purkinje cells shows dramatic defects in mitochondrial morphology, distribution, and cristae organization
• 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
• by 7 weeks, Purkinje cell axons show extensive torpedoes, focal swellings typical of many neuropathies
• 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

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: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 (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 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:3779093
cn9
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 (3 available); any Meox2 mutation (18 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 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
• mutant mice that survive the neonatal period die by P17
• mutant pups are born at appropriate Mendelian ratio
• after birth, about one third of mutant mice die on postnatal day 1




Genotype
MGI:3779088
cn10
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 (3 available); any Meox2 mutation (18 available)
Mfn1tm1Dcc mutation (0 available); any Mfn1 mutation (45 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (45 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3779089
cn11
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 (3 available); any Meox2 mutation (18 available)
Mfn1tm2Dcc mutation (2 available); any Mfn1 mutation (45 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant pups are born at appropriate Mendelian ratio
• mutant mice that survive the neonatal period die by P17
• after birth, about one third of mutant mice die on postnatal day 1

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:3578771
cx12
Allelic
Composition
Mfn1tm1Dcc/Mfn1tm1Dcc
Mfn2tm1Dcc/Mfn2tm1Dcc
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn1tm1Dcc mutation (0 available); any Mfn1 mutation (45 available)
Mfn2tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death occurs earlier than when either allele is singly homozygous





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory