B6.129-Tardbpem2.1(TARDBP)H/H
| Status | Available to order |
| EMMA ID | EM:14603 |
| International strain name | B6.129-Tardbpem2.1(TARDBP)H/H |
| Alternative name | B6;129-Tardbp em2.1(TARDBP)H/H |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Tardbpem2.1(TARDBP)H , |
| Gene/Transgene symbol | Tardbp |
Information from provider
| Provider | Elizabeth Fisher |
| Provider affiliation | UCL QS Motor Neuron Disease Centre |
| Additional owner | Abraham Acevedo, University Hospital of the Canary Islands, Tenerife, Spain |
| Genetic information | The official allele designation is Tardbp |
| Phenotypic information | Homozygous:No overt phenotyping. No aging has been performed at the time of submission. These mice can be used as a template to introduce amyotrophic lateral sclerosis (ALS) mutations and study the impact of such mutations when endogenously expressed - notably, not overexpressed like all other existing models that express human TARDBP variants. In fact this is the only mouse model that exclusively expresses the human and not the endogenous TARDBP protein, as other human TARDBP-expressing transgenic lines have not been viable on a Tardbp null background. This is important for studies aiming at understanding strains of misfolding of the human TDP-43 protein. Work from the prion field shows distinct pathological strains of mouse and human Prnp proteins and therefore it is important to study human TDP43 in the absence of the mouse orthologue. The vast majority of ALS cases exhibit TDP43 pathology (cytoplasmic mislocalisation and aggregation) in the absence of TARDBP mutations, via known and unknown mechanisms, which could be studied in these mice. Such triggers of TDP43 pathology could include genetic (e.g. C9orf72 expansion) and/or environmental (e.g. cellular stress) factors.Heterozygous:No overt phenotyping. No aging has been performed at the time of submission. |
| Breeding history | At least 5 generations of backcrossing to the C57BL/6J genetic background have been performed. |
| References | None available |
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |