IMPC phenotypes (gene matching)
- prolonged RR interval / IMPC
B6;129-Polktm1.1Rsky Polhtm1Crey PoliGt(S15-7G1)Sor/Orl
| Status | Available to order |
| EMMA ID | EM:05122 |
| Citation information | RRID:IMSR_EM:05122 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;129-Polktm1.1Rsky Polhtm1Crey PoliGt(S15-7G1)Sor/Orl |
| Alternative name | DNA polymerases etaXiotaXkappa KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Polktm1.1Rsky, Polhtm1Crey, PoliGt(S15-7G1)Sor |
| Gene/Transgene symbol | Polk, Polh, Poli |
Information from provider
| Provider | Claude-Agnes Reynaud |
| Provider affiliation | Faculte de Medecine Paris Descartes - Site Broussais, Unite INSERM 783 "Developpement du systeme immunitaire" |
| Genetic information | Pol eta: the gene-targeting construct results in the deletion of exon 4, which contains the DE polymerase motifs conserved in all Y-family polymerases and indispensable for their catalytic function. Pol iota: the gene-trap vector (Rosafary) was introduced between exons 1 and 2 in the ES cells. Pol kappa: the gene-targeting construct results in the deletion of exon 6, which contains two essential catalytic residues. |
| Phenotypic information | Increased incidence of UV-induced skin cancer. Decreased immunoglobulin somatic hypermutation at A/T base pairs. |
| Breeding history | For each strain the heterozygotes were obtained by breeding chimeras with C57BL/6 mice. These strains were crossed together to obtain triple knock-out mice. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | homozygous C57BL/6J males, homozygous C57BL/6J females |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Xeroderma pigmentosum variant / Orphanet_90342
MGI phenotypes (gene matching)
- abnormal ear pigmentation / MGI
- skin photosensitivity / MGI
- increased sensitivity to skin irradiation / MGI
- abnormal B cell physiology / MGI
- increased squamous cell carcinoma incidence / MGI
- increased incidence of tumors by UV-induction / MGI
- increased skin tumor incidence / MGI
- neoplasm / MGI
- immune system phenotype / MGI
- abnormal DNA repair / MGI
- increased cellular sensitivity to ultraviolet irradiation / MGI
Literature references
- Contribution of DNA polymerase eta to immunoglobulin gene hypermutation in the mouse.;Delbos Frédéric, De Smet Annie, Faili Ahmad, Aoufouchi Said, Weill Jean-Claude, Reynaud Claude-Agnès, ;2005;The Journal of experimental medicine;201;1191-6; 15824086
- Role of DNA polymerases eta, iota and zeta in UV resistance and UV-induced mutagenesis in a human cell line.;Gueranger Quentin, Stary Anne, Aoufouchi Saïd, Faili Ahmad, Sarasin Alain, Reynaud Claude-Agnès, Weill Jean-Claude, ;2008;DNA repair;7;1551-62; 18586118
- A backup role of DNA polymerase kappa in Ig gene hypermutation only takes place in the complete absence of DNA polymerase eta.;Faili Ahmad, Stary Anne, Delbos Frédéric, Weller Sandra, Aoufouchi Said, Sarasin Alain, Weill Jean-Claude, Reynaud Claude-Agnès, ;2009;Journal of immunology (Baltimore, Md. : 1950);182;6353-9; 19414788
- 129-Derived Mouse Strains Express an Unstable but Catalytically Active DNA Polymerase Iota Variant.;Aoufouchi Said, De Smet Annie, Delbos Frédéric, Gelot Camille, Guerrera Ida Chiara, Weill Jean-Claude, Reynaud Claude-Agnès, ;2015;Molecular and cellular biology;35;3059-70; 26124279