STOCK Bcorflox/Cnrm
| Status | Available to order |
| EMMA ID | EM:15104 |
| Citation information | RRID:IMSR_EM:15104 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 | STOCK Bcorflox/Cnrm |
| Alternative name | C57/BL6 BCOR floxed |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Bcorflox |
| Gene/Transgene symbol | Bcor |
Information from provider
| Provider | Paolo Sportoletti |
| Provider affiliation | Medicina e Chirurgia, Università Degli Studi Di Perugia |
| Genetic information | Bcor conditional knock-out targeted mutation (floxed exons 8-10). This mutation leads to mRNA degradation or to the translation of a non-functional protein. To study the effects of Bcor loss on hematopoietic cells, we crossed the Bcor floxed (exons 8-10) mice with mice that express the cre recombinase under the control of an inducible Mx1 promoter. The expression of Mx1-cre and excision of PGK-neo cassette were induced by poly-inosinicpolycytidylic acid (pIpC) treatment in vivo: 8- to 12 -week-old mice were injected intraperitoneally with 250 mg/dose pIpC every other day for 3 injections. Mice were analyzed starting 2 months after pIpC induction. |
| Phenotypic information | Homozygous:To study the effects of Bcor gene loss in the murine hematopoietic system, we crossed Bcor floxed mice with mice expressing the cre recombinase under the control of an inducible Mx1 promoter. In homozygous Bcor knock-out mice, we then performed serial complete blood counts that showed leukopenia (mainly due to B-cell lymphopenia), red blood cells' (RBC) reduction with increased mean corpuscle volume (MCV), and platelet count's progressive increase. Resulting thrombocytosis derived from the accumulation of both megakaryocytic-erythroid (MEP, Lin/Sca1/Kit+CD34FCyRII/IIIlo/) and megakaryocytic progenitors (MkPs, Lin-,c-Kit+,Sca1-,CD150+,CD41+) relied on a decrease of apoptosis within bone marrow cavity. The impact of Bcor loss on survival for an extended period (18 months) showed low survival rate of Bcor null mice, and post-mortem pathological examinations did not reveal any leukemia infiltration in hematopoietic organs. Taken together, these data confirmed that Bcor loss negatively influences mice survival by specifically subverting normal hematopoietic compartments and PB output.Heterozygous:Heterozygous mice lacking Bcor (Bcor+/-) show a similar, but less penetrant, phenotype as the homozygous knock-out mice. |
| Breeding history | . |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | yes |
| Immunocompromised | yes |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Clear cell sarcoma of kidney / Orphanet_457246
- Oculofaciocardiodental syndrome / Orphanet_2712
- Microphthalmia, Lenz type / Orphanet_568
Literature references
- Bcor deficiency perturbs erythro-megakaryopoiesis and cooperates with Dnmt3a loss in acute erythroid leukemia onset in mice.;Sportoletti Paolo, Sorcini Daniele, Guzman Anna G, Reyes Jaime M, Stella Arianna, Marra Andrea, Sartori Sara, Brunetti Lorenzo, Rossi Roberta, Papa Beatrice Del, Adamo Francesco Maria, Pianigiani Giulia, Betti Camilla, Scialdone Annarita, Guarente Valerio, Spinozzi Giulio, Tini Valentina, Martelli Maria Paola, Goodell Margaret A, Falini Brunangelo, ;2021;Leukemia;35;1949-1963; 33159179