| Status | Available to order |
| EMMA ID | EM:07153 |
| Citation information | RRID:IMSR_EM:07153 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 Sox2tm2Skn/Cnrm |
| Alternative name | Sox2 beta-geo knock-in |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Sox2tm2Skn |
| Gene/Transgene symbol | Sox2 |
| Provider | Silvia Nicolis |
| Provider affiliation | University of Milano-Bicocca |
| Genetic information | The Sox2 beta-geo knock-in mutation consists of the replacement of the Sox2 single protein-coding exon with beta-geo, which is thus expressed instead of Sox2 (see Ferri A et al, Development 2004, 131:3805, Fig. 2). |
| Phenotypic information | In homozygosity the mutation is early embryonic lethal, due to epiblast failure (as in Avilion A et al, Genes Dev 2003). Compound heterozygotes with a Sox2deltaENH mutation (null/deltaENH, hypomorphic Sox2 mutants) show neurodegeneration with cytoplasmic protein aggregates, impaired neurogenesis in the adult brain with loss of hippocampal neural stem cells, L-dopa-rescuable circling behaviour, and epilepsy (Ferri A et al, Development 131:3805-3819, 2004). Hippocampal neurogenesis defects are partially rescued by hemizygous Emx2 deletion (Mariani J et al, Nucleic Acids Res 40:6461, 2012). Neural stem cells from these mutants produce reduced numbers of mature neurons in culture; in vivo, GABAergic neurons are affected (Cavallaro M et al, Development 135:541-557, 2008). |
| Breeding history | The mutation was propagated by breeding between carriers and non-carrier cousins, or occasionally brothers. |
| References |
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| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Orphanet associated rare diseases, based on orthologous gene matching
