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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 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sor+
Tg(CAG-cre/Esr1*)5Amc/0
involves: C57BL/6 * CBA MGI:6198665
cn2
Gt(ROSA)26Sortm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sor+
Tg(Nes-cre)1Kln/0
involves: C57BL/6 * SJL MGI:6198662


Genotype
MGI:6198665
cn1
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 (993 available)
Tg(CAG-cre/Esr1*)5Amc mutation (10 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
cn2
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 (993 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 shows evidence of peripheral satellite cell fusion with soleus muscle fibers
• both small angulated myofibers and fiber grouping is absent in the soleus 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
• 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

limbs/digits/tail
• 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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 2A2A DOID:0110155 OMIM:609260
J:251584





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory