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 |
| 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, homozygous C57BL/6J |
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