IMPC phenotypes (gene matching)
B6J(D2)-TardbpRgsc2268/RgscH
| Status | Available to order |
| EMMA ID | EM:12615 |
| Citation information | RRID:IMSR_EM:12615 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 | B6J(D2)-TardbpRgsc2268/RgscH |
| Alternative name | Tardbp RRM2mut (F210I) B6 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | TardbpRgsc2268 |
| Gene/Transgene symbol | Tardbp |
Information from provider
| Provider | Yoichi Gondo |
| Provider affiliation | Department of Molecular Life Sciences, Tokai University School of Medicine |
| Genetic information | ENU induced point mutation, mouse Tardbp gene, "low complexity domain"; F210I (chr4:148,619,270 (mm10), T>A) |
| Phenotypic information | Homozygous:Embryonic lethal. Survive to E18.5 but are developmentally delayed.Heterozygous:None |
| Breeding history | More than 10 generations on C57BL/6J at MRC Harwell. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI phenotypes (gene matching)
- increased body weight / MGI
- abnormal locomotor behavior / MGI
- impaired coordination / MGI
- abnormal eating behavior / MGI
- polyphagia / MGI
- abnormal object recognition memory / MGI
- limb grasping / MGI
- abnormal learning/memory/conditioning / MGI
- abnormal motor capabilities/coordination/movement / MGI
- increased vertical activity / MGI
- no phenotypic analysis / MGI
- impaired muscle relaxation / MGI
- abnormal GABAergic neuron morphology / MGI
- nervous system phenotype / MGI
- decreased stereotypic behavior / MGI
- abnormal brain interneuron morphology / MGI
- abnormal muscle tone / MGI
- behavior/neurological phenotype / MGI
- slow postnatal weight gain / MGI
- decreased grip strength / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- absent inner cell mass proliferation / MGI
- embryonic lethality prior to organogenesis / MGI
- abnormal cognition / MGI
- cognitive inflexibility / MGI
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