MGI phenotypes (allele matching)
C3HeB/FeJ-Ercc2Mhdarco15/Ieg
| Status | Available to order |
| EMMA ID | EM:01278 |
| International strain name | C3HeB/FeJ-Ercc2Mhdarco15/Ieg |
| Alternative name | RCO015 |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Ercc2Mhdarco15, |
| Gene/Transgene symbol | Ercc2 |
Information from provider
| Provider | Martin Hrabe de Angelis |
| Provider affiliation | Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH) |
| Genetic information | hair: hair texture defects Disclaimer - Special restrictions: 1) Mutant development was phenotype driven. Although for some mutant lines, linkage data and the molecular characterization of the causative mutation has been published, EMMA has not genotyped the strains and can not provide genotyping protocols. 2) Some lines showed low penetrance of the phenotype. 3) Only sperm available. Rederivation service can not be offered. 4) EMMA quality control standards may not apply for these strains. 5) EMMA has not verified the breeding performance and the genetic background of the strains. The genotype/phenotype of the mice is not confirmed by INFRAFRONTIER/EMMA. We strongly recommend that the recipient confirms genotype/phenotype upon receipt. |
| Phenotypic information | hair: hair texture defects |
| References |
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Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- COFS syndrome / Orphanet_1466
- Xeroderma pigmentosum-Cockayne syndrome complex / Orphanet_220295
- Trichothiodystrophy / Orphanet_33364
- Xeroderma pigmentosum / Orphanet_910
Literature references
- Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
- Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017
- New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.;Kunze Sarah, Dalke Claudia, Fuchs Helmut, Klaften Matthias, Rössler Ute, Hornhardt Sabine, Gomolka Maria, Puk Oliver, Sabrautzki Sibylle, Kulka Ulrike, Hrabě de Angelis Martin, Graw Jochen, ;2015;PloS one;10;e0125304; 25951169
- Lifetime study in mice after acute low-dose ionizing radiation: a multifactorial study with special focus on cataract risk.;Dalke Claudia, Neff Frauke, Bains Savneet Kaur, Bright Scott, Lord Deborah, Reitmeir Peter, Rößler Ute, Samaga Daniel, Unger Kristian, Braselmann Herbert, Wagner Florian, Greiter Matthias, Gomolka Maria, Hornhardt Sabine, Kunze Sarah, Kempf Stefan J, Garrett Lillian, Hölter Sabine M, Wurst Wolfgang, Rosemann Michael, Azimzadeh Omid, Tapio Soile, Aubele Michaela, Theis Fabian, Hoeschen Christoph, Slijepcevic Predrag, Kadhim Munira, Atkinson Michael, Zitzelsberger Horst, Kulka Ulrike, Graw Jochen, ;2018;Radiation and environmental biophysics;57;99-113; 29327260