Phenotypes associated with this allele

• Allele Symbol: Sox2^tm1Lpev
• Allele Name: targeted mutation 1, Larysa Pevny
• Allele ID: MGI:3589809
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sox2^tm1Lpev/Sox2^+	Not Specified	MGI:3625902
ht2	Sox2^tm1Lpev/Sox2^tm3Lpev	involves: 129S/SvEv	MGI:3625924
ht3	Sox2^tm1Lpev/Sox2^tm4Lpev	involves: 129S/SvEv	MGI:3625925
ht4	Sox2^tm1Lpev/Sox2^tm2Lpev	involves: 129S/SvEv * C57BL/6	MGI:3811292
ht5	Sox2^tm1Lpev/Sox2^tm4Lpev	involves: 129S/SvEv * CD-1	MGI:7432492
cn6	Sox2^tm1Lpev/Sox2^tm2Lpev Tg(Pax6-cre,GFP)2Pgr/?	involves: 129S/SvEv	MGI:3625926

Genotype
MGI:3625902

ht1

• Allelic Composition: Sox2^tm1Lpev/Sox2⁺
• Genetic Background: Not Specified

• ♀: 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:3625924

ht2

• Allelic Composition: Sox2^tm1Lpev/Sox2^tm3Lpev
• Genetic Background: involves: 129S/SvEv

mortality/aging

neonatal lethality, complete penetrance ( J:112945 )

• pups die shortly after birth

vision/eye

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

retina hyperplasia ( J:108452 )

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

• reduction in cell number

anophthalmia ( J:108452 )

digestive/alimentary system

digestive/alimentary phenotype ( J:112945 )

N • no defects in sensory innervation of the tongue are apparent

absent palatal taste bud ( J:112945 )

• taste buds are absent in the mutant palate at P0

abnormal tongue morphology ( J:112945 )

abnormal fungiform papillae morphology ( J:112945 )

• no defects in the initial number, morphology or distribution of fungiform papillae

• by E16.5-18.5, fewer fungiform papillae are present compared to controls

• from E14.5-E18, a gradual reduction in the size and morphology of the fungiform papillae is seen

• fungiform taste buds, detected by keratin 8 immunostaining, are absent in P0 mutant tongues

• no abnormalities are seen in the filiform papillae at any stage

abnormal esophagus morphology ( J:112945 )

abnormal stomach morphology ( J:112945 )

craniofacial

absent palatal taste bud ( J:112945 )

• taste buds are absent in the mutant palate at P0

abnormal tongue morphology ( J:112945 )

abnormal fungiform papillae morphology ( J:112945 )

• no defects in the initial number, morphology or distribution of fungiform papillae

• by E16.5-18.5, fewer fungiform papillae are present compared to controls

• from E14.5-E18, a gradual reduction in the size and morphology of the fungiform papillae is seen

• fungiform taste buds, detected by keratin 8 immunostaining, are absent in P0 mutant tongues

• no abnormalities are seen in the filiform papillae at any stage

growth/size/body

absent palatal taste bud ( J:112945 )

• taste buds are absent in the mutant palate at P0

abnormal tongue morphology ( J:112945 )

abnormal fungiform papillae morphology ( J:112945 )

• no defects in the initial number, morphology or distribution of fungiform papillae

• by E16.5-18.5, fewer fungiform papillae are present compared to controls

• from E14.5-E18, a gradual reduction in the size and morphology of the fungiform papillae is seen

• fungiform taste buds, detected by keratin 8 immunostaining, are absent in P0 mutant tongues

• no abnormalities are seen in the filiform papillae at any stage

taste/olfaction

absent palatal taste bud ( J:112945 )

• taste buds are absent in the mutant palate at P0

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 )

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

• reduction in cell number

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:3811292

ht4

• Allelic Composition: Sox2^tm1Lpev/Sox2^tm2Lpev
• Genetic Background: involves: 129S/SvEv * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:122531 )

• at P0, mice die with air in their stomachs

digestive/alimentary system

abnormal esophagus morphology ( J:122531 )

• in some mice parts of the esophagus are thin or absent

• in mice without a tracheoesophageal fistula the esophagus is thinner than in wild-type mice and not squamous

• unlike in wild-type mice, esophageal tissue stains positive for mucus production markers

abnormal esophageal squamous epithelium morphology ( J:122531 )

• in mice without a tracheoesophageal fistula the esophagus is thinner than in wild-type mice and not squamous

esophageal atresia ( J:122531 )

• in 60% of mice

tracheoesophageal fistula ( J:122531 )

• in 60% of mice, a dorsally located fistula, known as the distal esophagus, connects the undivided foregut/trachea with a tube leading to the stomach

• at E18.5, the fistula is composed of simple columnar epithelium that resembles normal trachea epithelium with some multilayered regions

abnormal stomach morphology ( J:122531 )

• unlike in wild-type mice, the anterior stomach acquires posterior characteristics such as reduced keratinization, ectopic mucus cells and columnar epithelium

abnormal digestive system physiology ( J:122531 )

• BrdU incorporation of fistula esophageal epithelium is 7% of the rate observed in heterozygote controls and is similar to the proliferation rates observed in wild-type tracheal cells

• in mice without a tracheoesophageal fistula proliferating cells are found within the suprabasal layers of the esophageal epithelium compared to in the basal layers of stratified epithelium in control Sox2^tm2Lpev heterozygotes

respiratory system

tracheoesophageal fistula ( J:122531 )

• in 60% of mice, a dorsally located fistula, known as the distal esophagus, connects the undivided foregut/trachea with a tube leading to the stomach

• at E18.5, the fistula is composed of simple columnar epithelium that resembles normal trachea epithelium with some multilayered regions

respiratory distress ( J:122531 )

• at P0, mice exhibit labored breathing

Genotype
MGI:7432492

ht5

• 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

Genotype
MGI:3625926

cn6

• Allelic Composition: Sox2^tm1Lpev/Sox2^tm2Lpev; Tg(Pax6-cre,GFP)2Pgr/?
• Genetic Background: involves: 129S/SvEv

vision/eye

abnormal eye size ( J:108452 )

• a further reduction in eye size at E14.5 compared to Sox2^tm1Lpev/Sox2^tm3Lpev or Sox2^tm1Lpev/Sox2^tm4Lpev hypomorphs