MGI phenotypes (allele matching)
B6;D2-Tg(Eno2-MFN2*R94Q)L87Ugfm/Orl
| Status | Available to order |
| EMMA ID | EM:04781 |
| Citation information | RRID:IMSR_EM:04781 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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 males, wild-type C57BL/6J females |
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