- abnormal brain morphology / IMPC
- abnormal optic disk morphology / IMPC
- irregularly shaped pupil / IMPC
- developmental dysplasia / IMPC
- embryonic growth retardation / IMPC
- preweaning lethality, complete penetrance / IMPC
- embryonic lethality prior to organogenesis / IMPC
- abnormal retina blood vessel morphology / IMPC
- atrophy / IMPC
- enhanced contextual conditioning behavior / IMPC
STOCK Sox2tm3Skn/Cnrm
Status | Available to order |
EMMA ID | EM:07114 |
International strain name | STOCK Sox2tm3Skn/Cnrm |
Alternative name | Sox2 deltaENH |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Sox2tm3Skn |
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 |
|
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
IMPC phenotypes (gene matching)
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
MGI phenotypes (gene matching)
- abnormal inner ear morphology / MGI
- abnormal sulcus ampullaris morphology / MGI
- diluted coat color / MGI
- abnormal guard hair morphology / MGI
- abnormal awl hair morphology / MGI
- abnormal zigzag hair morphology / MGI
- abnormal auchene hair morphology / MGI
- abnormal esophagus morphology / MGI
- abnormal esophageal squamous epithelium morphology / MGI
- abnormal stomach morphology / MGI
- abnormal salivary gland morphology / MGI
- abnormal pituitary gland morphology / MGI
- abnormal tongue morphology / MGI
- decreased corpus callosum size / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal thalamus morphology / MGI
- motor neuron degeneration / MGI
- nonconvulsive seizures / MGI
- small testis / MGI
- decreased body size / MGI
- anophthalmia / MGI
- microphthalmia / MGI
- disorganized retinal layers / MGI
- retina hyperplasia / MGI
- circling / MGI
- bidirectional circling / MGI
- head bobbing / MGI
- abnormal pinna reflex / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- abnormal placing response / MGI
- abnormal digestive system physiology / MGI
- abnormal ectoderm development / MGI
- absent egg cylinders / MGI
- absent ectoplacental cone / MGI
- edema / MGI
- stomach inflammation / MGI
- reduced male fertility / MGI
- respiratory distress / MGI
- deafness / MGI
- abnormal sensory capabilities/reflexes/nociception / MGI
- postnatal lethality / MGI
- premature death / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal seminiferous tubule morphology / MGI
- abnormal semicircular canal morphology / MGI
- abnormal cochlear hair cell morphology / MGI
- abnormal ependyma morphology / MGI
- oligozoospermia / MGI
- no phenotypic analysis / MGI
- yellow coat color / MGI
- decreased cochlear coiling / MGI
- esophageal atresia / MGI
- gastrointestinal ulcer / MGI
- tracheoesophageal fistula / MGI
- abnormal nervous system morphology / MGI
- abnormal nervous system physiology / MGI
- abnormal palate morphology / MGI
- small vestibular saccule / MGI
- absent vestibular hair cells / MGI
- small utricle / MGI
- absent cochlear hair cells / MGI
- absent cochlear nerve compound action potential / MGI
- decreased cochlear nerve compound action potential / MGI
- dilated cochlea / MGI
- decreased male germ cell number / MGI
- decreased adrenocorticotropin level / MGI
- decreased luteinizing hormone level / MGI
- decreased thyroid-stimulating hormone level / MGI
- decreased growth hormone level / MGI
- decreased prolactin level / MGI
- head tossing / MGI
- dystonia / MGI
- growth/size/body region phenotype / MGI
- embryo phenotype / MGI
- digestive/alimentary phenotype / MGI
- behavior/neurological phenotype / MGI
- respiratory system phenotype / MGI
- vision/eye phenotype / MGI
- abnormal vestibular saccule morphology / MGI
- optic nerve hypoplasia / MGI
- abnormal fungiform papillae morphology / MGI
- small adenohypophysis / MGI
- decreased somatotroph cell number / MGI
- enlarged lateral ventricles / MGI
- enlarged third ventricle / MGI
- increased trophoblast giant cell number / MGI
- absent palatine gland / MGI
- absent anterior lingual gland / MGI
- abnormal neuron differentiation / MGI
- abnormal epiglottis morphology / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- embryonic lethality between implantation and placentation, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- absent embryonic epiblast / MGI
- abnormal adenohypophysis development / MGI
- bifurcated Rathke's pouch / MGI
- tongue inflammation / MGI
- abnormal Ebner's gland morphology / 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
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