Phenotypes associated with this allele

• Allele Symbol: Sox2^tm3Skn
• Allele Name: targeted mutation 3, Silvia K Nicolis
• Allele ID: MGI:3052123
• Summary: 1 genotype

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

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