MGI phenotypes (allele matching)
- abnormal B cell physiology / MGI
B6.129P2-Polhtm1Crey/Orl
| Status | Available to order |
| EMMA ID | EM:05106 |
| 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 |
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| 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, wild-type C57BL/6J |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Xeroderma pigmentosum variant / Orphanet_90342
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