Phenotypes associated with this allele

• Allele Symbol: Sox1^tm1Vep
• Allele Name: targeted mutation 1, Vasso Episkopou
• Allele ID: MGI:2137412
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox1^tm1Vep/Sox1^tm1Vep	either: (involves: 129/Sv * 129S/SvEv) or (involves: 129S/SvEv * MF1)	MGI:2174892
ht2	Sox1^tm1Vep/Sox1^tm2Vep	involves: 129S/SvEv	MGI:3702614
cx3	Sox1^tm1Vep/Sox1^tm2Vep Sox2^tm1Vep/Sox2^+	involves: 129S/SvEv	MGI:3702615
cx4	Sox1^tm1Vep/Sox1^tm1Vep Sox2^tm1Vep/Sox2^+	involves: 129S/SvEv	MGI:3702617

Genotype
MGI:2174892

hm1

• Allelic Composition: Sox1^tm1Vep/Sox1^tm1Vep
• Genetic Background: either: (involves: 129/Sv * 129S/SvEv) or (involves: 129S/SvEv * MF1)

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

mortality/aging

premature death ( J:46636 )

• high mortality was observed in both genetic backgrounds

behavior/neurological

abnormal parental behavior ( J:46636 )

• animals are unfit to care for their offspring

abnormal sexual interaction ( J:46636 )

• homozygotes of both sexes rarely mate

seizures ( J:46636 )

• mice suffer from spontaneous seizures

nervous system

seizures ( J:46636 )

• mice suffer from spontaneous seizures

vision/eye

abnormal lens development ( J:46636 )

• expression of gamma crystallin genes was reduced by E15.5

abnormal lens vesicle development ( J:46636 )

• induction and fiber cell differentiation occur normally but the fiber cells fail to elongate all the way toward the anterior epithelial wall, leaving a cavity within the lens vesicle

small lens ( J:46636 )

• mutant lens is reduced in size by approximately 20% at E15.5

microphthalmia ( J:46636 )

Genotype
MGI:3702614

ht2

• Allelic Composition: Sox1^tm1Vep/Sox1^tm2Vep
• Genetic Background: involves: 129S/SvEv

nervous system

nervous system phenotype ( J:99610 )

N • generation and patterning of lateral ganglionic eminence (LGE) precursors is normal in mutants

abnormal neuronal migration ( J:99610 )

• early- and late-born neurons fail to migrate to appropriate positions to form ventral striatum

abnormal striatum morphology ( J:99610 )

• between E13 and 16, striatal mantle is more densely populated by proliferating precursors compared to wild-type

abnormal ventral striatum morphology ( J:99610 )

• migration or differentiation of ventral striatum (VS) neurons is disturbed in mutants

• at E13 to birth, the striatal bridges are absent

abnormal nucleus accumbens morphology ( J:99610 )

• staining for the markers Brn5 and Robo at E13 reveals a neural differentiation defect restricted in the region of the nucleus accumbens and olfactory tubercle (OT), and not the rest of the striatum

abnormal olfactory cortex morphology ( J:99610 )

• at E13 to birth, the striatal bridges and the olfactory tubercule (OT) layers are absent

cellular

abnormal neuronal migration ( J:99610 )

• early- and late-born neurons fail to migrate to appropriate positions to form ventral striatum

Genotype
MGI:3702615

cx3

• Allelic Composition: Sox1^tm1Vep/Sox1^tm2Vep; Sox2^tm1Vep/Sox2⁺
• Genetic Background: involves: 129S/SvEv

mortality/aging

premature death ( J:99610 )

• lethality associated with seizures is observed around weaning and is increased relative to Sox1-null mice

behavior/neurological

seizures ( J:99610 )

nervous system

seizures ( J:99610 )

abnormal olfactory cortex morphology ( J:99610 )

• embryos do not develop the olfactory tubercle (OT)

• at P10, OT neurons are detected in striatal mantle, but not in ventral striatum

vision/eye

microphthalmia ( J:99610 )

• mice are born with small eyes

Genotype
MGI:3702617

cx4

• Allelic Composition: Sox1^tm1Vep/Sox1^tm1Vep; Sox2^tm1Vep/Sox2⁺
• Genetic Background: involves: 129S/SvEv

nervous system

abnormal olfactory cortex morphology ( J:99610 )

• olfactory tubercle (OT) region is compacted in absence of many Sox1 neurons

• neurons expressing Sox1 from the Sox2 locus migrate to the OT in absence of endogenous Sox1 expression; striatal bridges form