MGI phenotypes (allele matching)
B6;D2-Tg(Eno2-MFN2*R94Q)L87Ugfm/Orl
| Status | Available to order |
| EMMA ID | EM:04781 |
| International strain name | B6;D2-Tg(Eno2-MFN2*R94Q)L87Ugfm/Orl |
| Alternative name | MitoCharc2 |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | Tg(Eno2-MFN2*R94Q)L87Ugfm |
| Gene/Transgene symbol | Tg(Eno2-MFN2*R94Q)L87Ugfm |
Information from provider
| Provider | Romain Cartoni |
| Provider affiliation | F.M. Kirby Neurobiology Center , Children |
| Genetic information | The MitoCharc2 transgene was designed with the human mitofusin 2 (MNF2) gene driven by a neuron specific enolase promoter. Amino acid 94 of MNF2 was mutated from an Arginine (R) to a Glutamine (Q) to mimic the most commonly mutated residue in Charcot-Marie-Tooth disease type 2A (CMT2A). The transgene was microinjected into fertilized C57BL/6 x DBA/2 F1 oocytes, and founder mice were bred to C57BL/6J mice to establish a colony. |
| Phenotypic information | MitoCharc2 transgenic mice exhibit symptoms of CMT2A including locomotor impairment, gait defects, and a shift in the size of myelinated axons correlating with an increase in mitochondria in these axons at 5 months of age. |
| Breeding history | Founders with the mixed background C57BL/6 x B6D2F1 were first bred with pure C57BL/6. Transgenic homozygotes were generated by breeding hemizygotes from these litters and maintained by inbred crossing. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6J, wild-type C57BL/6J |
Disease and phenotype information
MGI allele-associated human disease models
Literature references
- Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.;Cartoni Romain, Arnaud Estelle, Médard Jean-Jacques, Poirot Olivier, Courvoisier Delphine S, Chrast Roman, Martinou Jean-Claude, ;2010;Brain : a journal of neurology;133;1460-9; 20418531