STOCK Sox2^tm2Skn/Cnrm

Status	Available to order
EMMA ID	EM:07153
International strain name	STOCK Sox2^tm2Skn/Cnrm
Alternative name	Sox2 beta-geo knock-in
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Sox2^tm2Skn,
Gene/Transgene symbol	Sox2

Information from provider

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	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 Sox2 regulatory sequences direct expression of a (beta)-geo transgene to telencephalic neural stem cells and precursors of the mouse embryo, revealing regionalization of gene expression in CNS stem cells.;Zappone M V, Galli R, Catena R, Meani N, De Biasi S, Mattei E, Tiveron C, Vescovi A L, Lovell-Badge R, Ottolenghi S, Nicolis S K, ;2000;Development (Cambridge, England);127;2367-82; 10804179
Homozygous fertile	no
Homozygous viable	no
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
Sox2 regulatory sequences direct expression of a (beta)-geo transgene to telencephalic neural stem cells and precursors of the mouse embryo, revealing regionalization of gene expression in CNS stem cells.;Zappone M V, Galli R, Catena R, Meani N, De Biasi S, Mattei E, Tiveron C, Vescovi A L, Lovell-Badge R, Ottolenghi S, Nicolis S K, ;2000;Development (Cambridge, England);127;2367-82; 10804179

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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).

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Practical information

Example health report
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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 Sox2tm2Skn/Cnrm