IMPC phenotypes (gene matching)
B6;129S5-Mdc1Gt(OST441263)Lex/Cnrm
| Status | Available to order |
| EMMA ID | EM:11817 |
| Citation information | RRID:IMSR_EM:11817 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 | B6;129S5-Mdc1Gt(OST441263)Lex/Cnrm |
| Alternative name | Mdc1+/- |
| Strain type | Gene-trap |
| Allele/Transgene symbol | Mdc1Gt(OST441263)Lex |
| Gene/Transgene symbol | Mdc1 |
Information from provider
| Provider | Zhenkun Lou |
| Provider affiliation | Oncology, Mayo Clinic |
| Genetic information | Mdc1+/- mice were originally obtained injecting the ES clone (OST441263) from Lexicon Genetics into C57BL/6 blastocysts to generate chimeric mice. Splicing of the neomycin gene and flanking DNA produces a transcript that potentially disrupts the proper splicing of exons 1 and 2 of the Mdc1 gene |
| Phenotypic information | Homozygous:MDC1 knockout mice recapitulated many phenotypes of H2AX knockout mice, including growth retardation, male infertility, immune defects, chromosome instability, DNA repair defects, and radiation sensitivityHeterozygous:no described phenotype |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI phenotypes (gene matching)
- decreased cell proliferation / MGI
- small spleen / MGI
- small thymus / MGI
- small testis / MGI
- small seminiferous tubules / MGI
- postnatal growth retardation / MGI
- male infertility / MGI
- decreased litter size / MGI
- oligozoospermia / MGI
- no phenotypic analysis / MGI
- increased mortality induced by ionizing radiation / MGI
- spontaneous chromosome breakage / MGI
- increased cellular sensitivity to ionizing radiation / MGI
- abnormal class switch recombination / MGI
- abnormal double-strand DNA break repair / MGI
Literature references
- MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals.;Lou Zhenkun, Minter-Dykhouse Katherine, Franco Sonia, Gostissa Monica, Rivera Melissa A, Celeste Arkady, Manis John P, van Deursen Jan, Nussenzweig André, Paull Tanya T, Alt Frederick W, Chen Junjie, ;2006;Molecular cell;21;187-200; 16427009