Phenotypes associated with this allele

• Allele Symbol: Sox2^tm4Lpev
• Allele Name: targeted mutation 4, Larysa H Pevny
• Allele ID: MGI:3625178
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox2^tm4Lpev/Sox2^tm4Lpev	involves: 129S/SvEv	MGI:3625917
ht2	Sox2^tm4Lpev/Sox2^+	involves: 129S/SvEv	MGI:3625916
ht3	Sox2^tm1Lpev/Sox2^tm4Lpev	involves: 129S/SvEv	MGI:3625925
ht4	Sox2^tm1Lpev/Sox2^tm4Lpev	involves: 129S/SvEv * CD-1	MGI:7432492

Genotype
MGI:3625917

hm1

• Allelic Composition: Sox2^tm4Lpev/Sox2^tm4Lpev
• Genetic Background: involves: 129S/SvEv

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

normal phenotype

no abnormal phenotype detected ( J:108452 )

• viable, born in appropriate Mendelian ratios, phenotypically and morphologically indistinguishable from wild-type mice

Genotype
MGI:3625916

ht2

• Allelic Composition: Sox2^tm4Lpev/Sox2⁺
• Genetic Background: involves: 129S/SvEv

normal phenotype

no abnormal phenotype detected ( J:108452 )

• viable, born in appropriate Mendelian ratios, phenotypically and morphologically indistinguishable from wild-type mice

Genotype
MGI:3625925

ht3

• Allelic Composition: Sox2^tm1Lpev/Sox2^tm4Lpev
• Genetic Background: involves: 129S/SvEv

vision/eye

optic nerve hypoplasia ( J:108452 )

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

microphthalmia ( J:108452 )

• a range of eye phenotypes from mild bilateral microphthalmia to severe anophthalmia

disorganized retina layers ( J:108452 )

• disrupted cell layering consisting of rosette structures

• retinal ganglion cells are inappropriately localized

retina hyperplasia ( J:108452 )

• reduction in cell number

• 30%-40% thinner than wild-type retinas

anophthalmia ( J:108452 )

• a range of eye phenotypes from mild bilateral microphthalmia to severe anophthalmia

nervous system

optic nerve hypoplasia ( J:108452 )

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

Genotype
MGI:7432492

ht4

• Allelic Composition: Sox2^tm1Lpev/Sox2^tm4Lpev
• Genetic Background: involves: 129S/SvEv * CD-1

vision/eye

microphthalmia ( J:223203 )

• at E13.5-E16.5, embryos display microphthalmia of variable severity

craniofacial

palatal shelves fail to meet at midline ( J:223203 )

• 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

cleft secondary palate ( J:223203 )

• 67% of newborns exhibit secondary palatal clefting

delayed palatal shelf elevation ( J:223203 )

• 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

failure of palatal shelf elevation ( J:223203 )

• at E16.5, a subset of embryos exhibit asymmetry of the palatal shelves

digestive/alimentary system

palatal shelves fail to meet at midline ( J:223203 )

• 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

cleft secondary palate ( J:223203 )

• 67% of newborns exhibit secondary palatal clefting

delayed palatal shelf elevation ( J:223203 )

• 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

failure of palatal shelf elevation ( J:223203 )

• at E16.5, a subset of embryos exhibit asymmetry of the palatal shelves

growth/size/body

palatal shelves fail to meet at midline ( J:223203 )

• 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

cleft secondary palate ( J:223203 )

• 67% of newborns exhibit secondary palatal clefting

delayed palatal shelf elevation ( J:223203 )

• 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

failure of palatal shelf elevation ( J:223203 )

• at E16.5, a subset of embryos exhibit asymmetry of the palatal shelves