B6.Cg-Rpl11tm1.1Srn/Cnbc
| Status | Available to order |
| EMMA ID | EM:13828 |
| International strain name | B6.Cg-Rpl11tm1.1Srn/Cnbc |
| Alternative name | Rpl11(lox/+) |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Rpl11tm1.1Srn |
| Gene/Transgene symbol | Rpl11 |
Information from provider
| Provider | Manuel Serrano |
| Provider affiliation | Cellular Plasticity and Disease, Institute for Research in Biomedicine (IRB) |
| Genetic information | Diamond-Blackfan anemia (DBA) is characterized by anemia and cancer susceptibility and is caused by mutations in ribosomal genes, including RPL11. Rpl11-heterozygous mouse embryos are not viable and Rpl11 homozygous deletion in adult mice results in death within a few weeks, accompanied by bone marrow aplasia and intestinal atrophy. Importantly, Rpl11 heterozygous deletion in adult mice results in anemia associated with decreased erythroid progenitors and defective erythroid maturation. These defects are also present in mice transplanted with inducible heterozygous Rpl11 bone marrow and, therefore, are intrinsic to the hematopoietic system. Additionally, heterozygous Rpl11 mice present increased susceptibility to radiation-induced lymphomagenesis. In this regard, total or partial deletion of Rpl11 compromises p53 activation upon ribosomal stress or DNA damage in fibroblasts. Moreover, fibroblasts and hematopoietic tissues from heterozygous Rpl11 mice present higher basal cMYC levels. We conclude that Rpl11-deficient mice recapitulate DBA disorder, including cancer predisposition. |
| Phenotypic information | Homozygous:Rpl11-lox/lox mice are viable (the lox allele carries lox sites flanking exons 3 and 4). Excision in embryos: Rpl11-∆/∆ embryos are not viable. Excision in adults: ubiquitous excision of both Rpl11 alleles in adults using a Tg(UBC-cre/ERT2) transgene results in 100% lethality within 8 weeks.Heterozygous:Rpl11-lox/+ mice are viable (the floxed allele carries loxP sites flanking exons 3 and 4). Excision in embryos: Rpl11-∆/+ embryos are not viable. Excision in adults: ubiquitous deletion of one Rpl11 allele in adults using a Tg(UBC-cre/ERT2) transgene produces a non-lethal anemia as a result of reduced erythropoiesis. |
| Breeding history | This strain has been backcrossed for 10 generations to C57BL/6. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | heterozygous C57BL/6J, wild-type C57BL/6J |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Blackfan-Diamond anemia / Orphanet_124
Literature references
- Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis.;Morgado-Palacin Lucia, Varetti Gianluca, Llanos Susana, Gómez-López Gonzalo, Martinez Dolores, Serrano Manuel, ;2015;Cell reports;13;712-722; 26489471