C57BL/6-Epm2aem1Cwor/Cnbc
| Status | Available to order |
| EMMA ID | EM:15645 |
| Citation information | RRID:IMSR_EM:15645 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 | C57BL/6-Epm2aem1Cwor/Cnbc |
| Alternative name | Epm2a-R240X |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Epm2aem1Cwor |
| Gene/Transgene symbol | Epm2a |
Information from provider
| Provider | Marina P. Sánchez García |
| Provider affiliation | Neurology Laboratory, Health Research Institute- Fundación Jiménez Díaz |
| Additional owner | Matthew S. Gentry, Ph.D., Department of Biochemistry and Molecular Biology, College of Medicine, University of Florida, Gainesville, FL 32610, USA |
| Genetic information | The Epm2a-R240X mouse model was created using CRISPR/Cas9 technology. These mice express the R240X mutation (arginine to termination codon) in the Epm2a gene (epilepsy, progressive myoclonic epilepsy, type 2), equivalent to the human R241X mutation. |
| Phenotypic information | Homozygous:Mice homozygous for the mutation develop most of the alterations reported in patients with Lafora disease, including the presence of Lafora bodies, neurodegeneration, neuroinflammation, interictal spikes, neuronal, hyperexcitability, and cognitive decline.Heterozygous:No symptoms associated with Lafora disease in heterozygous mice. The disease is inherited in an autosomal recessive manner. |
| Breeding history | The mouse line was generated in C57BL/6 genetic background and backcrossed 6 times to C57BL/6. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | yes |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous C57BL/6J males |
Literature references
- Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a-/- mice.;Burgos Daniel F, Sciaccaluga Miriam, Worby Carolyn A, Zafra-Puerta Luis, Iglesias-Cabeza Nerea, Sánchez-Martín Gema, Prontera Paolo, Costa Cinzia, Serratosa José M, Sánchez Marina P, ;2023;Neurobiology of disease;181;106119; 37059210