STOCK Sox2tm4.1Skn/Cnrm
| Status | Available to order |
| EMMA ID | EM:07995 |
| International strain name | STOCK Sox2tm4.1Skn/Cnrm |
| Alternative name | Sox2flox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Sox2tm4.1Skn, |
| Gene/Transgene symbol | Sox2 |
Information from provider
| Provider | Silvia Nicolis |
| Provider affiliation | University of Milano-Bicocca |
| Genetic information | This is a targeted mutation in which the single coding exon of the Sox2 gene is flanked by loxP sites. The original description of this mutation is in Favaro R. et al., Nature Neuroscience 12:1248-1256, 2009. |
| Phenotypic information | Homozygous:Nestin-Cre-deleted Sox2flox mutants have loss of postnatal hippocampus neural stem cells in vivo, and loss of neural stem cells self-renewal in long-term in vitro neural stem cell cultures (Favaro et al., Nature Neuroscience 2009). BF1-Cre Sox2-flox deletion in telencephalon leads to loss of the basal ganglia primordial, the Medial Ganglionic Eminences (Ferri A et al., Development 2013). This Sox2flox mutation allowed to study Sox2 functions in a wide range of other, non-neural tissues (see References).Heterozygous:Heterozygotes have no major phenotype. |
| Breeding history | The original chimaeras were bred to B6D2F1 females. Sox2flox heterozygotes were bred to BF1Cre transgenics, that had been maintained onto a Swiss Webster background, as background is important to maintain specificity of Cre activity for the telencephalon (Hébert J.M., and McConnell, S.K. (2000), Dev. Biol. 222, 296-306). In the last period, as the original Swiss Webster-bred strain had died out and Swiss Webster mice were not available, we started breeding Sox2flox onto 129/Sv, another strain that preserves the specificity of BF1Cre. We studied the effects of BF1Cre-mediated Sox2flox deletion in Ferri A. et al., Development 140:1250-1261, 2013. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
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
- Colobomatous microphthalmia / Orphanet_98938
- Anophthalmia/microphthalmia-esophageal atresia syndrome / Orphanet_77298
- Nanophthalmos / Orphanet_35612
- Septo-optic dysplasia spectrum / Orphanet_3157
Literature references
- Hippocampal development and neural stem cell maintenance require Sox2-dependent regulation of Shh.;Favaro Rebecca, Valotta Menella, Ferri Anna L M, Latorre Elisa, Mariani Jessica, Giachino Claudio, Lancini Cesare, Tosetti Valentina, Ottolenghi Sergio, Taylor Verdon, Nicolis Silvia K, ;2009;Nature neuroscience;12;1248-56; 19734891
- Essential role of Sox2 for the establishment and maintenance of the germ cell line.;Campolo Federica, Gori Manuele, Favaro Rebecca, Nicolis Silvia, Pellegrini Manuela, Botti Flavia, Rossi Pellegrino, Jannini Emmanuele A, Dolci Susanna, ;2013;Stem cells (Dayton, Ohio);31;1408-21; 23553930
- Sox2 is required for embryonic development of the ventral telencephalon through the activation of the ventral determinants Nkx2.1 and Shh.;Ferri Anna, Favaro Rebecca, Beccari Leonardo, Bertolini Jessica, Mercurio Sara, Nieto-Lopez Francisco, Verzeroli Cristina, La Regina Federico, De Pietri Tonelli Davide, Ottolenghi Sergio, Bovolenta Paola, Nicolis Silvia K, ;2013;Development (Cambridge, England);140;1250-61; 23444355
- Sox2 requirement in sonic hedgehog-associated medulloblastoma.;Ahlfeld Julia, Favaro Rebecca, Pagella Pierfrancesco, Kretzschmar Hans A, Nicolis Silvia, Schüller Ulrich, ;2013;Cancer research;73;3796-807; 23596255
- Sox2 and Mitf cross-regulatory interactions consolidate progenitor and melanocyte lineages in the cranial neural crest.;Adameyko Igor, Lallemend Francois, Furlan Alessandro, Zinin Nikolay, Aranda Sergi, Kitambi Satish Srinivas, Blanchart Albert, Favaro Rebecca, Nicolis Silvia, Lübke Moritz, Müller Thomas, Birchmeier Carmen, Suter Ueli, Zaitoun Ismail, Takahashi Yoshiko, Ernfors Patrik, ;2012;Development (Cambridge, England);139;397-410; 22186729
- Sox2 and Pax6 maintain the proliferative and developmental potential of gliogenic neural stem cells In vitro.;Gómez-López Sandra, Wiskow Ole, Favaro Rebecca, Nicolis Silvia K, Price David J, Pollard Steven M, Smith Austin, ;2011;Glia;59;1588-99; 21766338
- The transcription factor Sox2 is required for osteoblast self-renewal.;Basu-Roy U, Ambrosetti D, Favaro R, Nicolis S K, Mansukhani A, Basilico C, ;2010;Cell death and differentiation;17;1345-53; 20489730
- Signaling through BMP receptors promotes respiratory identity in the foregut via repression of Sox2.;Domyan Eric T, Ferretti Elisabetta, Throckmorton Kurt, Mishina Yuji, Nicolis Silvia K, Sun Xin, ;2011;Development (Cambridge, England);138;971-81; 21303850
- Sox2 in the dermal papilla niche controls hair growth by fine-tuning BMP signaling in differentiating hair shaft progenitors.;Clavel Carlos, Grisanti Laura, Zemla Roland, Rezza Amelie, Barros Rita, Sennett Rachel, Mazloom Amin Reza, Chung Chi-Yeh, Cai Xiaoqiang, Cai Chen-Leng, Pevny Larysa, Nicolis Silvia, Ma'ayan Avi, Rendl Michael, ;2012;Developmental cell;23;981-94; 23153495
- Human ESC-derived neural crest model reveals a key role for SOX2 in sensory neurogenesis.;Cimadamore Flavio, Fishwick Katherine, Giusto Elena, Gnedeva Ksenia, Cattarossi Giulio, Miller Amber, Pluchino Stefano, Brill Laurence M, Bronner-Fraser Marianne, Terskikh Alexey V, ;2011;Cell stem cell;8;538-51; 21549328