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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sox2tm4Lpev
targeted mutation 4, Larysa H Pevny
MGI:3625178
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sox2tm4Lpev/Sox2tm4Lpev involves: 129S/SvEv MGI:3625917
ht2
Sox2tm4Lpev/Sox2+ involves: 129S/SvEv MGI:3625916
ht3
Sox2tm1Lpev/Sox2tm4Lpev involves: 129S/SvEv MGI:3625925
ht4
Sox2tm1Lpev/Sox2tm4Lpev involves: 129S/SvEv * CD-1 MGI:7432492


Genotype
MGI:3625917
hm1
Allelic
Composition
Sox2tm4Lpev/Sox2tm4Lpev
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox2tm4Lpev mutation (1 available); any Sox2 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable, born in appropriate Mendelian ratios, phenotypically and morphologically indistinguishable from wild-type mice




Genotype
MGI:3625916
ht2
Allelic
Composition
Sox2tm4Lpev/Sox2+
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox2tm4Lpev mutation (1 available); any Sox2 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable, born in appropriate Mendelian ratios, phenotypically and morphologically indistinguishable from wild-type mice




Genotype
MGI:3625925
ht3
Allelic
Composition
Sox2tm1Lpev/Sox2tm4Lpev
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox2tm1Lpev mutation (1 available); any Sox2 mutation (56 available)
Sox2tm4Lpev mutation (1 available); any Sox2 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• show hypoplasia of optic nerves and chiasmata by gross morphological analyses of brain
• a range of eye phenotypes from mild bilateral microphthalmia to severe anophthalmia
• disrupted cell layering consisting of rosette structures
• retinal ganglion cells are inappropriately localized
• 30%-40% thinner than wild-type retinas
• reduction in cell number
• a range of eye phenotypes from mild bilateral microphthalmia to severe anophthalmia

nervous system
• show hypoplasia of optic nerves and chiasmata by gross morphological analyses of brain




Genotype
MGI:7432492
ht4
Allelic
Composition
Sox2tm1Lpev/Sox2tm4Lpev
Genetic
Background
involves: 129S/SvEv * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sox2tm1Lpev mutation (1 available); any Sox2 mutation (56 available)
Sox2tm4Lpev mutation (1 available); any Sox2 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at E13.5-E16.5, embryos display microphthalmia of variable severity

craniofacial
• at E14.75, palatal shelves are abnormally separated, with consistently unilateral defects in the anterior third of the palatal shelf
• at E16.5, a broad cleft is present, unlike in control fetuses where palatal shelf fusion is complete
• however, developing secondary palatal shelves are normal at E13.5, and no mandibular hypoplasia/retrognathia is noted at E16.5
• 67% of newborns exhibit secondary palatal clefting
• at E14.75, all embryos with clefting (5/5) also display a unilateral failure of shelf elevation, either specifically in the anterior region (4/5) or along the length of the secondary palate (1/5)
• however, by E16.5, most of the affected embryos show bilaterally elevated palatal shelves
• at E16.5, a subset of embryos exhibit asymmetry of the palatal shelves

digestive/alimentary system
• at E14.75, palatal shelves are abnormally separated, with consistently unilateral defects in the anterior third of the palatal shelf
• at E16.5, a broad cleft is present, unlike in control fetuses where palatal shelf fusion is complete
• however, developing secondary palatal shelves are normal at E13.5, and no mandibular hypoplasia/retrognathia is noted at E16.5
• 67% of newborns exhibit secondary palatal clefting
• at E14.75, all embryos with clefting (5/5) also display a unilateral failure of shelf elevation, either specifically in the anterior region (4/5) or along the length of the secondary palate (1/5)
• however, by E16.5, most of the affected embryos show bilaterally elevated palatal shelves
• at E16.5, a subset of embryos exhibit asymmetry of the palatal shelves

growth/size/body
• at E14.75, palatal shelves are abnormally separated, with consistently unilateral defects in the anterior third of the palatal shelf
• at E16.5, a broad cleft is present, unlike in control fetuses where palatal shelf fusion is complete
• however, developing secondary palatal shelves are normal at E13.5, and no mandibular hypoplasia/retrognathia is noted at E16.5
• 67% of newborns exhibit secondary palatal clefting
• at E14.75, all embryos with clefting (5/5) also display a unilateral failure of shelf elevation, either specifically in the anterior region (4/5) or along the length of the secondary palate (1/5)
• however, by E16.5, most of the affected embryos show bilaterally elevated palatal shelves
• at E16.5, a subset of embryos exhibit asymmetry of the palatal shelves





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory