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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sox2tm2Skn
targeted mutation 2, Silvia K Nicolis
MGI:2181440
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Sox2tm2Skn/Sox2tm3Skn involves: 129S/SvEv * 129S1/Sv * C57BL/6J MGI:3052335
cn2
Sox2tm2Skn/Sox2tm4.1Skn
Tg(Nes-cre)1Kln/0
either: (involves: 129S/Sv * C57BL/6 * SJL) or (involves: 129S/Sv * C57BL/6 * DBA/2 * SJL) MGI:4398746


Genotype
MGI:3052335
ht1
Allelic
Composition
Sox2tm2Skn/Sox2tm3Skn
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox2tm2Skn mutation (1 available); any Sox2 mutation (20 available)
Sox2tm3Skn mutation (1 available); any Sox2 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• reduced survival, 40% of mutants die by 4 weeks
• frequency of double heterozygote births is less than expected

behavior/neurological
• limb dystonia in 40% of mutants
• L-dopa-rescuable circling behavior observed at 3-4 weeks
• epileptic spikes in cortex and hippocampus in 40% of mutants

growth/size/body
• growth retardation

nervous system
• impaired neurogenesis in hippocampus and lateral ventricle
• enlargement developed at E17.5
• enlargement developed at E17.5
• progressive reduction of corpus callosum (absent in 15% of mice)
• decrease in size of anterior thalamus, dorsal striatum and septum
• cortex reduced posteriorly and medially
• large lipidic inclusions and reduction in cilia
• neuronal degeneration in striatum, septum and thalamus
• perinuclear inclusions abundant by 6 months of age
• epileptic spikes in cortex and hippocampus in 40% of mutants

muscle
• limb dystonia in 40% of mutants

cellular
• impaired neurogenesis in hippocampus and lateral ventricle




Genotype
MGI:4398746
cn2
Allelic
Composition
Sox2tm2Skn/Sox2tm4.1Skn
Tg(Nes-cre)1Kln/0
Genetic
Background
either: (involves: 129S/Sv * C57BL/6 * SJL) or (involves: 129S/Sv * C57BL/6 * DBA/2 * SJL)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox2tm2Skn mutation (1 available); any Sox2 mutation (20 available)
Sox2tm4.1Skn mutation (1 available); any Sox2 mutation (20 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die by 4 weeks of age

nervous system
• brain cultures of P0 neurospheres in EGF exhibit reduced neural stem cells by the second and fourth passage compared to wild-type cultures that continue to proliferate
• neurospheres from P0 brain cultures in EGF die out by the fifth or sixth passage unlike wild-type cultures that continue to proliferate
• P0 brain cultures in EGF and bFGF adhere to the plate at early passages before becoming exhausted unlike similarly treated wild-type cultures that continue to proliferate
• defects in neural stem cell maintenance are accompanied by a strong decrease in neurosphere size
• P7 brain cultures are exhausted between the first and fourth passage unlike wild-type cultures that continue to proliferate
• brain cultures from E14.5 mice are more viable than later cultures but exhibit reduced proliferation compared with wild-type cultures
• however, treatment of P0 cultures with media from wild-type cultures restores proliferation
• from P0 hippocampal development is reduced compared to in wild-type mice
• moderately at P0
• prematurely interrupted at P0
• at P0, the number of GFAP/nestin+ cells in the dentate gyrus sub-granular layer is slightly decreased compared to in wild-type mice
• at P2, the number of GFAP/nestin+ cells in the dentate gyrus is strongly reduced compared to in wild-type mice
• the reduction in dentate gyrus cells is attributed to decreased proliferation and transient increase in apoptosis compared to in wild-type mice
• almost completely by P7
• the reduction in dentate gyrus cells is attributed to decreased proliferation and transient increase in apoptosis compared to in wild-type mice
• slightly at P0 and markedly at P7
• at P0, the posterior ventrolateral cortex is slightly reduced in size compared to in wild-type mice

cellular
• brain cultures of P0 neurospheres in EGF exhibit reduced neural stem cells by the second and fourth passage compared to wild-type cultures that continue to proliferate
• neurospheres from P0 brain cultures in EGF die out by the fifth or sixth passage unlike wild-type cultures that continue to proliferate
• P0 brain cultures in EGF and bFGF adhere to the plate at early passages before becoming exhausted unlike similarly treated wild-type cultures that continue to proliferate
• defects in neural stem cell maintenance are accompanied by a strong decrease in neurosphere size
• P7 brain cultures are exhausted between the first and fourth passage unlike wild-type cultures that continue to proliferate
• brain cultures from E14.5 mice are more viable than later cultures but exhibit reduced proliferation compared with wild-type cultures
• however, treatment of P0 cultures with media from wild-type cultures restores proliferation





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last database update
10/15/2019
MGI 6.14
The Jackson Laboratory