STOCK Sox2^tm3Skn/Cnrm

Status	Available to order
EMMA ID	EM:07114
International strain name	STOCK Sox2^tm3Skn/Cnrm
Alternative name	Sox2 deltaENH
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Sox2^tm3Skn,
Gene/Transgene symbol	Sox2

Information from provider

Provider	Silvia Nicolis
Provider affiliation	University of Milano-Bicocca
Genetic information	This mutation consists of the targeted deletion of a 5-prime telencephalic enhancer of the Sox2 gene. Mice compound heterozygotes for this mutation and a Sox2 null mutation show reduced Sox2 expression in the developing telencephalon.
Phenotypic information	Compound heterozygotes for this enhancer deletion and a Sox2 null mutation show neurodegeneration and impaired neurogenesis in the adult mouse brain, involving loss of hippocampal radial glia stem cells (Ferri A. et al., Development 131:3805, 2004); further, neural stem cells cultured from these mutants show impaired generation of mature neurons, mirrored by impaired terminal differentiation of GABAergic neurons in vivo (Cavallaro M. et al., Development 135:541, 2008). The effect of the mutation on hippocampal radial glia stem cells is antagonized by the simultaneous loss of one Emx2 allele (Mariani J. et al., Nucl. Acids Res. 40:6461, 2012).
Breeding history	The mutation has been crossed to Sox2 beta-geo heterozygous null mutants, to produce compound heterozygotes; then it has been bred to homozygosity.
References	Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain.;Ferri Anna L M, Cavallaro Maurizio, Braida Daniela, Di Cristofano Antonello, Canta Annalisa, Vezzani Annamaria, Ottolenghi Sergio, Pandolfi Pier Paolo, Sala Mariaelvina, DeBiasi Silvia, Nicolis Silvia K, ;2004;Development (Cambridge, England);131;3805-19; 15240551 Impaired generation of mature neurons by neural stem cells from hypomorphic Sox2 mutants.;Cavallaro Maurizio, Mariani Jessica, Lancini Cesare, Latorre Elisa, Caccia Roberta, Gullo Francesca, Valotta Menella, DeBiasi Silvia, Spinardi Laura, Ronchi Antonella, Wanke Enzo, Brunelli Silvia, Favaro Rebecca, Ottolenghi Sergio, Nicolis Silvia K, ;2008;Development (Cambridge, England);135;541-57; 18171687 Emx2 is a dose-dependent negative regulator of Sox2 telencephalic enhancers.;Mariani J, Favaro R, Lancini C, Vaccari G, Ferri A L, Bertolini J, Tonoli D, Latorre E, Caccia R, Ronchi A, Ottolenghi S, Miyagi S, Okuda A, Zappavigna V, Nicolis S K, ;2012;Nucleic acids research;40;6461-76; 22495934
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

MGI phenotypes (allele matching)

decreased corpus callosum size / MGI
abnormal cerebral cortex morphology / MGI
abnormal thalamus morphology / MGI
motor neuron degeneration / MGI
nonconvulsive seizures / MGI
decreased body size / MGI
bidirectional circling / MGI
premature death / MGI
abnormal brain morphology / MGI
abnormal ependyma morphology / MGI
abnormal nervous system morphology / MGI
abnormal nervous system physiology / MGI
dystonia / MGI
enlarged lateral ventricles / MGI
enlarged third ventricle / MGI
abnormal neuron differentiation / MGI
prenatal lethality, incomplete penetrance / MGI

Literature references

Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain.;Ferri Anna L M, Cavallaro Maurizio, Braida Daniela, Di Cristofano Antonello, Canta Annalisa, Vezzani Annamaria, Ottolenghi Sergio, Pandolfi Pier Paolo, Sala Mariaelvina, DeBiasi Silvia, Nicolis Silvia K, ;2004;Development (Cambridge, England);131;3805-19; 15240551
Impaired generation of mature neurons by neural stem cells from hypomorphic Sox2 mutants.;Cavallaro Maurizio, Mariani Jessica, Lancini Cesare, Latorre Elisa, Caccia Roberta, Gullo Francesca, Valotta Menella, DeBiasi Silvia, Spinardi Laura, Ronchi Antonella, Wanke Enzo, Brunelli Silvia, Favaro Rebecca, Ottolenghi Sergio, Nicolis Silvia K, ;2008;Development (Cambridge, England);135;541-57; 18171687
Emx2 is a dose-dependent negative regulator of Sox2 telencephalic enhancers.;Mariani J, Favaro R, Lancini C, Vaccari G, Ferri A L, Bertolini J, Tonoli D, Latorre E, Caccia R, Ronchi A, Ottolenghi S, Miyagi S, Okuda A, Zappavigna V, Nicolis S K, ;2012;Nucleic acids research;40;6461-76; 22495934

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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STOCK Sox2tm3Skn/Cnrm