All Phenotypes Mfn2<tm1Dcc> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Mfn2^tm1Dcc
targeted mutation 1, David C Chan
MGI:2450306

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mfn2^tm1Dcc/Mfn2^tm1Dcc	involves: 129S/SvEv	MGI:3578770
cn2	Mfn2^tm1Dcc/Mfn2^tm3Dcc	involves: 129 * 129S4/SvJaeSor * Black Swiss	MGI:3779084
cn3	Gabra6^tm2(cre)Wwis/Gabra6⁺ Mfn2^tm1Dcc/Mfn2^tm3Dcc	involves: 129 * 129S4/SvJaeSor * Black Swiss	MGI:3779097
cn4	Mfn1^tm1Dcc/Mfn1^tm2Dcc Mfn2^tm1Dcc/Mfn2^tm3Dcc Tg(Pcp2-cre)2Mpin/0	involves: 129 * 129S4/SvJaeSor * Black Swiss	MGI:3779091
cn5	Mfn2^tm1Dcc/Mfn2^tm3Dcc H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129 * 129S4/SvJaeSor * Black Swiss	MGI:3779094
cn6	En1^tm2(cre)Wrst/En1⁺ Mfn2^tm1Dcc/Mfn2^tm3Dcc	involves: 129 * 129S4/SvJaeSor * Black Swiss	MGI:3779095
cn7	Mfn2^tm1Dcc/Mfn2^tm3Dcc Tg(Pcp2-cre)2Mpin/0	involves: 129 * 129S4/SvJaeSor * Black Swiss	MGI:3779096
cn8	Mfn2^tm1Dcc/Mfn2^tm3Dcc Tg(EIIa-cre)C5379Lmgd/0	involves: 129 * 129S4/SvJaeSor * Black Swiss * FVB/N	MGI:3779092
cn9	Meox2^tm1(cre)Sor/Meox2⁺ Mfn2^tm1Dcc/Mfn2^tm3Dcc	involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss	MGI:3779093
cn10	Meox2^tm1(cre)Sor/Meox2⁺ Mfn1^tm1Dcc/Mfn1^tm2Dcc Mfn2^tm1Dcc/Mfn2^tm3Dcc	involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss	MGI:3779088
cn11	Meox2^tm1(cre)Sor/Meox2⁺ Mfn1^tm2Dcc/Mfn1⁺ Mfn2^tm1Dcc/Mfn2^tm3Dcc	involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss	MGI:3779089
cx12	Mfn1^tm1Dcc/Mfn1^tm1Dcc Mfn2^tm1Dcc/Mfn2^tm1Dcc	involves: 129S/SvEv	MGI:3578771

Allelic Composition	Mfn2^tm1Dcc/Mfn2^tm1Dcc
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)

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

Defective giant cell layer of Mfn2^tm1Dcc/Mfn2^tm1Dcc placenta

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:81438 )

• frequency of homozygous embryos normal up to E9.5

• 29% of homozygotes resorbed at E10.5

• 87% of homozygotes resorbed at E11.5

embryo

decreased embryo size ( J:81438 )

• embryos slightly smaller than littermates between E9.5 and E10.5 embryos slightly smaller than littermates between E9.5 and E10.5

abnormal trophoblast layer morphology ( J:81438 )

• smaller nuclei

decreased trophoblast giant cell number ( J:81438 )

• reduced numbers of trophoblast giant cells

• form an incomplete layer only one cell layer thick in placentas from E8.5-E10.5

cellular

abnormal mitochondrial morphology ( J:81438 )

• spherical or oval shaped mitochondria

• with cristae and a double membrane

abnormal mitochondrial physiology ( J:81438 )

• individual mitochondria functionally defective

• fewer mitochondrial fusion events observed

• mobility impaired secondary to abnormalities in shape

growth/size/body

decreased embryo size ( J:81438 )

• embryos slightly smaller than littermates between E9.5 and E10.5 embryos slightly smaller than littermates between E9.5 and E10.5

Allelic Composition	Mfn2^tm1Dcc/Mfn2^tm3Dcc
Genetic Background	involves: 129 * 129S4/SvJaeSor * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2^tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)

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

cellular

abnormal mitochondrial morphology ( J:132329 )

• fibroblast derived from mutant animals exhibit Cre-dependent mitochondrial fragmentation

• loss of mtDNA nucleoids from a significant fraction of mitochondria

Allelic Composition	Gabra6^tm2(cre)Wwis/Gabra6⁺ Mfn2^tm1Dcc/Mfn2^tm3Dcc
Genetic Background	involves: 129 * 129S4/SvJaeSor * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabra6^tm2(cre)Wwis mutation (2 available); any Gabra6 mutation (39 available)
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2^tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)

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

normal phenotype

no abnormal phenotype detected ( J:132329 )

• shows no defect in balance and coordination

• no anatomical abnormality in cerebella

Allelic Composition	Mfn1^tm1Dcc/Mfn1^tm2Dcc Mfn2^tm1Dcc/Mfn2^tm3Dcc 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:
Mfn1^tm1Dcc mutation (0 available); any Mfn1 mutation (45 available)
Mfn1^tm2Dcc mutation (2 available); any Mfn1 mutation (45 available)
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2^tm3Dcc 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 degeneration ( J:132329 )

• Purkinje cell death in 9 weeks-old mutant mice cerebella

abnormal Purkinje cell dendrite morphology ( J:132329 )

• Purkinje cell dendrite attenuation in 9 weeks-old mutant mice cerebella

cellular

abnormal respiratory electron transport chain ( J:132329 )

• 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

Allelic Composition	Mfn2^tm1Dcc/Mfn2^tm3Dcc H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129 * 129S4/SvJaeSor * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2^tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:132329 )

• 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

impaired righting response ( J:132329 )

• mice surviving beyond P1 cannot easily regain posture when placed on their backs

impaired limb coordination ( J:132329 )

• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body

decreased body size ( J:132329 )

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

nervous system

small cerebellum ( J:132329 )

• severe defect in postnatal cerebellar growth

Allelic Composition	En1^tm2(cre)Wrst/En1⁺ Mfn2^tm1Dcc/Mfn2^tm3Dcc
Genetic Background	involves: 129 * 129S4/SvJaeSor * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1^tm2(cre)Wrst mutation (1 available); any En1 mutation (34 available)
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2^tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:132329 )

• 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

impaired righting response ( J:132329 )

• mice surviving beyond P1 cannot easily regain posture when placed on their backs

impaired limb coordination ( J:132329 )

• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body

decreased body size ( J:132329 )

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

nervous system

abnormal neuron mitochondrial morphology ( J:132329 )

• mitochondria in mutant Purkinje cells in mixed cerebellar cultures tend to cluster together in the cell body and do not enter the dendritic tracts

increased neuron apoptosis ( J:132329 )

• markedly higher levels of apoptosis in mutant cerebella as early as p6 and continuing through the second postnatal week

Purkinje cell degeneration ( J:132329 )

• 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

abnormal Purkinje cell dendrite morphology ( J:132329 )

• reduced growth and deterioration of Purkinje cell dendrite during the second postnatal week

small cerebellum ( J:132329 )

• 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

abnormal neuron mitochondrial morphology ( J:132329 )

• mitochondria in mutant Purkinje cells in mixed cerebellar cultures tend to cluster together in the cell body and do not enter the dendritic tracts

increased neuron apoptosis ( J:132329 )

• markedly higher levels of apoptosis in mutant cerebella as early as p6 and continuing through the second postnatal week

Allelic Composition	Mfn2^tm1Dcc/Mfn2^tm3Dcc Tg(Pcp2-cre)2Mpin/0
Genetic Background	involves: 129 * 129S4/SvJaeSor * Black Swiss

Find Mice

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

behavior/neurological

impaired coordination ( J:132329 )

• a progressive decline in coordination and balance in rotarod test

abnormal gait ( J:132329 )

• 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

abnormal cerebellum morphology ( J:132329 )

• obvious neuro-degeneration of cerebella over time

abnormal Purkinje cell mitochondrial morphology ( J:132329 )

• ultrastructurally the mitochondria in mutant Purkinje cells shows dramatic defects in mitochondrial morphology, distribution, and cristae organization

Purkinje cell degeneration ( J:132329 )

• 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

abnormal Purkinje cell focal axonal swelling ( J:132329 )

• by 7 weeks, Purkinje cell axons show extensive torpedoes, focal swellings typical of many neuropathies

abnormal Purkinje cell dendrite morphology ( J:132329 )

• Purkinje cell dendrite attenuation in 9 weeks-old mutant mice cerebella

small cerebellum ( J:132329 )

• 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

abnormal Purkinje cell mitochondrial morphology ( J:132329 )

• ultrastructurally the mitochondria in mutant Purkinje cells shows dramatic defects in mitochondrial morphology, distribution, and cristae organization

abnormal respiratory electron transport chain ( J:132329 )

• 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

Allelic Composition	Mfn2^tm1Dcc/Mfn2^tm3Dcc Tg(EIIa-cre)C5379Lmgd/0
Genetic Background	involves: 129 * 129S4/SvJaeSor * Black Swiss * FVB/N

Find Mice

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

mortality/aging

prenatal lethality, complete penetrance ( J:132329 )

• embryos die during mid-gestation similar to Mfn2^tm1Dcc homozygous embryos

Allelic Composition	Meox2^tm1(cre)Sor/Meox2⁺ Mfn2^tm1Dcc/Mfn2^tm3Dcc
Genetic Background	involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2^tm1(cre)Sor mutation (3 available); any Meox2 mutation (18 available)
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2^tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)

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

behavior/neurological

impaired righting response ( J:132329 )

• mice surviving beyond P1 cannot easily regain posture when placed on their backs

impaired limb coordination ( J:132329 )

• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body

decreased body size ( J:132329 )

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

nervous system

small cerebellum ( J:132329 )

• severe defect in postnatal cerebellar growth

mortality/aging

postnatal lethality, complete penetrance ( J:132329 )

• mutant mice that survive the neonatal period die by P17

• mutant pups are born at appropriate Mendelian ratio

neonatal lethality, incomplete penetrance ( J:132329 )

• after birth, about one third of mutant mice die on postnatal day 1

Allelic Composition	Meox2^tm1(cre)Sor/Meox2⁺ Mfn1^tm1Dcc/Mfn1^tm2Dcc Mfn2^tm1Dcc/Mfn2^tm3Dcc
Genetic Background	involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2^tm1(cre)Sor mutation (3 available); any Meox2 mutation (18 available)
Mfn1^tm1Dcc mutation (0 available); any Mfn1 mutation (45 available)
Mfn1^tm2Dcc mutation (2 available); any Mfn1 mutation (45 available)
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2^tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:132329 )

• invariably die on P0

Allelic Composition	Meox2^tm1(cre)Sor/Meox2⁺ Mfn1^tm2Dcc/Mfn1⁺ Mfn2^tm1Dcc/Mfn2^tm3Dcc
Genetic Background	involves: 129S/SvEv * 129S4/SvJaeSor * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2^tm1(cre)Sor mutation (3 available); any Meox2 mutation (18 available)
Mfn1^tm2Dcc mutation (2 available); any Mfn1 mutation (45 available)
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)
Mfn2^tm3Dcc mutation (2 available); any Mfn2 mutation (27 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:132329 )

• mutant pups are born at appropriate Mendelian ratio

• mutant mice that survive the neonatal period die by P17

neonatal lethality, incomplete penetrance ( J:132329 )

• after birth, about one third of mutant mice die on postnatal day 1

behavior/neurological

impaired righting response ( J:132329 )

• mice surviving beyond P1 cannot easily regain posture when placed on their backs

impaired limb coordination ( J:132329 )

• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body

decreased body size ( J:132329 )

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

Allelic Composition	Mfn1^tm1Dcc/Mfn1^tm1Dcc Mfn2^tm1Dcc/Mfn2^tm1Dcc
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mfn1^tm1Dcc mutation (0 available); any Mfn1 mutation (45 available)
Mfn2^tm1Dcc mutation (0 available); any Mfn2 mutation (27 available)

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

mortality/aging

prenatal lethality ( J:81438 )

• death occurs earlier than when either allele is singly homozygous

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