B6J(D2)-TardbpRgsc2223/RgscH
| Status | Available to order |
| EMMA ID | EM:12613 |
| International strain name | B6J(D2)-TardbpRgsc2223/RgscH |
| Alternative name | Tardbp LCDmut (M323K) B6 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | TardbpRgsc2223, |
| Gene/Transgene symbol | Tardbp |
Information from provider
| Provider | Yoichi Gondo |
| Provider affiliation | Tokai University School of Medicine |
| Genetic information | ENU induced point mutation, mouse Tardbp gene, "low complexity domain"; M323K (chr4:148,618,538, mm10, T>A) |
| Phenotypic information | Homozygous:Homozygous mice are non viable on C57BL/6J. Homozygous mice on (C57BL/6J x DBA/2)F1 survive and exhibit slowly progressive motor neuron disease, including degeneration of motor neurons in the spinal cord, evident after 1 year (Fratta P. et al.; http://emboj.embopress.org/content/early/2018/05/14/embj.201798684).Heterozygous:No known phenotype. |
| Breeding history | >10 generations on C57BL/6J at MRC Harwell |
| References |
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| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Literature references
- ENU-based gene-driven mutagenesis in the mouse: a next-generation gene-targeting system.;Gondo Yoichi, Fukumura Ryutaro, Murata Takuya, Makino Shigeru, ;2010;Experimental animals;59;537-48; 21030782
- Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.;Fratta Pietro, Sivakumar Prasanth, Humphrey Jack, Lo Kitty, Ricketts Thomas, Oliveira Hugo, Brito-Armas Jose M, Kalmar Bernadett, Ule Agnieszka, Yu Yichao, Birsa Nicol, Bodo Cristian, Collins Toby, Conicella Alexander E, Mejia Maza Alan, Marrero-Gagliardi Alessandro, Stewart Michelle, Mianne Joffrey, Corrochano Silvia, Emmett Warren, Codner Gemma, Groves Michael, Fukumura Ryutaro, Gondo Yoichi, Lythgoe Mark, Pauws Erwin, Peskett Emma, Stanier Philip, Teboul Lydia, Hallegger Martina, Calvo Andrea, Chiò Adriano, Isaacs Adrian M, Fawzi Nicolas L, Wang Eric, Housman David E, Baralle Francisco, Greensmith Linda, Buratti Emanuele, Plagnol Vincent, Fisher Elizabeth Mc, Acevedo-Arozena Abraham, ;2018;The EMBO journal;37;; 29764981