IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
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
MGI phenotypes (gene matching)
- decreased bone mineral density / MGI
- osteoporosis / MGI
- kyphosis / MGI
- decreased hematocrit / MGI
- abnormal coat/ hair morphology / MGI
- abnormal hair follicle morphology / MGI
- enlarged hair follicles / MGI
- alopecia / MGI
- sparse hair / MGI
- abnormal sebaceous gland morphology / MGI
- enlarged sebaceous gland / MGI
- enlarged spleen / MGI
- tremors / MGI
- abnormal testis morphology / MGI
- reddish skin / MGI
- scaly skin / MGI
- thick skin / MGI
- skin photosensitivity / MGI
- abnormal epidermis stratum granulosum morphology / MGI
- hyperkeratosis / MGI
- decreased body size / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- cataract / MGI
- small lens / MGI
- corneal opacity / MGI
- decreased exploration in new environment / MGI
- limb grasping / MGI
- anemia / MGI
- abnormal hemoglobin / MGI
- postnatal growth retardation / MGI
- acanthosis / MGI
- reduced female fertility / MGI
- female infertility / MGI
- abnormal ovulation / MGI
- neoplasm / MGI
- increased incidence of induced tumors / MGI
- premature death / MGI
- disproportionate dwarf / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- white spotting / MGI
- astrocytosis / MGI
- nervous system phenotype / MGI
- premature aging / MGI
- abnormal hair cuticle / MGI
- brittle hair / MGI
- greasy coat / MGI
- increased incidence of tumors by chemical induction / MGI
- increased incidence of tumors by UV-induction / MGI
- cachexia / MGI
- abnormal circulating amino acid level / MGI
- growth/size/body region phenotype / MGI
- immune system phenotype / MGI
- reproductive system phenotype / MGI
- skeleton phenotype / MGI
- hematopoietic system phenotype / MGI
- abnormal skeleton morphology / MGI
- abnormal cell physiology / MGI
- abnormal DNA repair / MGI
- increased cellular sensitivity to ultraviolet irradiation / MGI
- decreased cellular sensitivity to ultraviolet irradiation / MGI
- microgliosis / MGI
- abnormal fat cell morphology / MGI
- decreased total body fat amount / MGI
- rough coat / MGI
- focal dorsal hair loss / MGI
- nuclear cataracts / MGI
- increased skin tumor incidence / MGI
- decreased tumor latency / MGI
- mortality/aging / MGI
- integument phenotype / MGI
- embryonic lethality before implantation, complete penetrance / MGI
- vacuolated lens / MGI
- abnormal response to radiation / MGI
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