Phenotypes associated with this allele

• Allele Symbol: Sox2^tm2Skn
• Allele Name: targeted mutation 2, Silvia K Nicolis
• Allele ID: MGI:2181440
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sox2^tm2Skn/Sox2^tm3Skn	involves: 129S/SvEv * 129S1/Sv * C57BL/6J	MGI:3052335
cn2	Sox2^tm2Skn/Sox2^tm4.1Skn 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: Sox2^tm2Skn/Sox2^tm3Skn
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:92063 )

• reduced survival, 40% of mutants die by 4 weeks

prenatal lethality, incomplete penetrance ( J:92063 )

• frequency of double heterozygote births is less than expected

behavior/neurological

dystonia ( J:92063 )

• limb dystonia in 40% of mutants

bidirectional circling ( J:92063 )

• L-dopa-rescuable circling behavior observed at 3-4 weeks

nonconvulsive seizures ( J:92063 )

• epileptic spikes in cortex and hippocampus in 40% of mutants

growth/size/body

decreased body size ( J:92063 )

• growth retardation

nervous system

abnormal nervous system morphology ( J:92063 )

abnormal neuron differentiation ( J:92063 )

• impaired neurogenesis in hippocampus and lateral ventricle

abnormal brain morphology ( J:92063 )

enlarged lateral ventricles ( J:92063 )

• enlargement developed at E17.5

enlarged third ventricle ( J:92063 )

• enlargement developed at E17.5

decreased corpus callosum size ( J:92063 )

• progressive reduction of corpus callosum (absent in 15% of mice)

abnormal thalamus morphology ( J:92063 )

• decrease in size of anterior thalamus, dorsal striatum and septum

abnormal cerebral cortex morphology ( J:92063 )

• cortex reduced posteriorly and medially

abnormal ependyma morphology ( J:92063 )

• large lipidic inclusions and reduction in cilia

motor neuron degeneration ( J:92063 )

• neuronal degeneration in striatum, septum and thalamus

• perinuclear inclusions abundant by 6 months of age

abnormal nervous system physiology ( J:92063 )

nonconvulsive seizures ( J:92063 )

• epileptic spikes in cortex and hippocampus in 40% of mutants

muscle

dystonia ( J:92063 )

• limb dystonia in 40% of mutants

cellular

abnormal neuron differentiation ( J:92063 )

• impaired neurogenesis in hippocampus and lateral ventricle

Genotype
MGI:4398746

cn2

• Allelic Composition: Sox2^tm2Skn/Sox2^tm4.1Skn; Tg(Nes-cre)1Kln/0
• Genetic Background: either: (involves: 129S/Sv * C57BL/6 * SJL) or (involves: 129S/Sv * C57BL/6 * DBA/2 * SJL)

mortality/aging

premature death ( J:154650 )

• most mice die by 4 weeks of age

nervous system

abnormal neuron differentiation ( J:154650 )

• 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

abnormal hippocampus development ( J:154650 )

• from P0 hippocampal development is reduced compared to in wild-type mice

enlarged lateral ventricles ( J:154650 )

• moderately at P0

abnormal corpus callosum morphology ( J:154650 )

• prematurely interrupted at P0

abnormal dentate gyrus morphology ( J:154650 )

• 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

absent dentate gyrus ( J:154650 )

• almost completely by P7

loss of hippocampal neurons ( J:154650 )

• the reduction in dentate gyrus cells is attributed to decreased proliferation and transient increase in apoptosis compared to in wild-type mice

small hippocampus ( J:154650 )

• slightly at P0 and markedly at P7

abnormal cerebral cortex morphology ( J:154650 )

• at P0, the posterior ventrolateral cortex is slightly reduced in size compared to in wild-type mice

cellular

abnormal neuron differentiation ( J:154650 )

• 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