MGI phenotypes (allele matching)
- abnormal B cell physiology / MGI
B6.129P2-Polhtm1Crey/Orl
| Status | Available to order |
| EMMA ID | EM:05106 |
| Citation information | RRID:IMSR_EM:05106 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 | B6.129P2-Polhtm1Crey/Orl |
| Alternative name | DNA polymersase eta KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Polhtm1Crey |
| Gene/Transgene symbol | Polh |
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 | Targeting construct is derived from 129 DNA. 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. |
| Phenotypic information | Increased incidence of UV induced skin cancer. Decreased immunoglobulin somatic hypermutation at A/T base pairs. |
| Breeding history | The heterozygotes obtained by breeding chimeras with C57BL/6 mice were crossed together and screened for the absence of the stop codon mutation borne by the Polh gene from the 129/Ola genetic background of the ES cells. Inbred mice were backcrossed with C57BL/6 for at least 5 generations. |
| 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, wild-type C57BL/6J females |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Xeroderma pigmentosum variant / Orphanet_90342
MGI phenotypes (gene matching)
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