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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple
targeted mutation 1, David Pleasure
MGI:5629288
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple involves: C57BL/6 MGI:5629299
cn2
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sor+
Tg(CAG-cre/Esr1*)5Amc/0
involves: C57BL/6 * CBA MGI:6198665
cn3
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sor+
Tg(Nes-cre)1Kln/0
involves: C57BL/6 * SJL MGI:6198662


Genotype
MGI:5629299
hm1
Allelic
Composition
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple mutation (1 available); any Gt(ROSA)26Sor mutation (502 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
phenotype not analyzed




Genotype
MGI:6198665
cn2
Allelic
Composition
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sor+
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple mutation (1 available); any Gt(ROSA)26Sor mutation (502 available)
Tg(CAG-cre/Esr1*)5Amc mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice develop a diseased phenotype beginning 4-6 weeks following tamoxifen treatment, with multiple organ failure leading to lethality

respiratory system
• mice develop respiratory distress 4-6 weeks after tamoxifen treatment

behavior/neurological
• mice exhibit loss of mobility 4-6 weeks after tamoxifen treatment

cellular
• tamoxifen-treated mice exhibit mitochondrial aggregation in renal cortex and liver parenchyma and small mitochondria aggregation in Schwann cell cytoplasm of the sciatic nerve, most likely indicating un-fused mitochondria

homeostasis/metabolism
• mice develop bloating due to ascites accumulation 4-6 weeks after tamoxifen treatment

integument
• mice exhibit skin follicle erection 4-6 weeks after tamoxifen treatment

nervous system
• tamoxifen-treated mice show abnormal myelination of the tibial nerve, with abnormal myelin configurations surrounding some axons
• tibial nerves of tamoxifen-treated mice show double myelinated axons in which the inner portion of the outer sheath is decompacting




Genotype
MGI:6198662
cn3
Allelic
Composition
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sor+
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple mutation (1 available); any Gt(ROSA)26Sor mutation (502 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit a decrease in hind limb footprint length that is similar to the pes cavus foot deformity in humans

cellular
• diminished number of mitochondria in peripheral nerve axons, with fewer mitochondria per tibial axon
• however, no mitochondrial aggregation is seen

muscle
• soleus muscle exhibits a decrease in sarcomeric actin immunostaining and disruption of the normal striatal mitochondrial organization
• fast muscle fiber diameter of the tibialis and slow/mixed muscle fiber diameter of the soleus are reduced
• fast muscle fiber atrophy in the anterior tibialis musculature
• myofiber atrophy in soleus muscle
• soleus muscle shows evidence of peripheral satellite cell fusion with soleus muscle fibers
• both small angulated myofibers and fiber grouping is absent in the soleus muscle
• conversion of slow to mixed slow/fast fibers

nervous system
N
• no abnormal myelination is seen and the number of myelinating axons, their diameters, and degree of myelination in sciatic nerve is normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 2A2 DOID:0110155 OMIM:609260
J:251584





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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory