C3H/HeH.C57BL/6J-Pde6b+Ecsitmpc178H/H
| Status | Available to order |
| EMMA ID | EM:16004 |
| Citation information | RRID:IMSR_EM:16004 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 | C3H/HeH.C57BL/6J-Pde6b+Ecsitmpc178H/H |
| Alternative name | C3H/HeH.C57BL/6J-Pde6b<+>Ecsit |
| Strain type | |
| Allele/Transgene symbol | Ecsitmpc178Hv |
| Gene/Transgene symbol | Ecsit |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | The strain carries an ENU induced mutation which causes an asparagine to isoleucine change at codon 209 of Ecsit. |
| Phenotypic information | Homozygous:Homozygotes show hypertrophic cardiomyopathy by 8 weeks of age which is the result of a profound complex I assembly defect.Heterozygous:No overt phenotype reported |
| Breeding history | Original mutant MUTA-G1-C3PDE/342.1c was the offspring of a C57BL/6J male that received ENU mated to a "sighted" C3H female. The mutation causes an asparagine to isoleucine change at codon 209 of Ecsit. Strain is congenic on C3H.Pde6b. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Literature references
- Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.;Potter Paul K, Bowl Michael R, Jeyarajan Prashanthini, Wisby Laura, Blease Andrew, Goldsworthy Michelle E, Simon Michelle M, Greenaway Simon, Michel Vincent, Barnard Alun, Aguilar Carlos, Agnew Thomas, Banks Gareth, Blake Andrew, Chessum Lauren, Dorning Joanne, Falcone Sara, Goosey Laurence, Harris Shelley, Haynes Andy, Heise Ines, Hillier Rosie, Hough Tertius, Hoslin Angela, Hutchison Marie, King Ruairidh, Kumar Saumya, Lad Heena V, Law Gemma, MacLaren Robert E, Morse Susan, Nicol Thomas, Parker Andrew, Pickford Karen, Sethi Siddharth, Starbuck Becky, Stelma Femke, Cheeseman Michael, Cross Sally H, Foster Russell G, Jackson Ian J, Peirson Stuart N, Thakker Rajesh V, Vincent Tonia, Scudamore Cheryl, Wells Sara, El-Amraoui Aziz, Petit Christine, Acevedo-Arozena Abraham, Nolan Patrick M, Cox Roger, Mallon Anne-Marie, Brown Steve D M, ;2016;Nature communications;7;12444; 27534441