Phenotypes associated with this allele

• Allele Symbol: Sox2^tm2Lpev
• Allele Name: targeted mutation 2, Larysa H Pevny
• Allele ID: MGI:3625175
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox2^tm2Lpev/Sox2^tm2Lpev	involves: 129S/SvEv	MGI:3625904
ht2	Sox2^tm2Lpev/Sox2^+	involves: 129S/SvEv	MGI:3625903
ht3	Sox2^tm1Lpev/Sox2^tm2Lpev	involves: 129S/SvEv * C57BL/6	MGI:3811292
ht4	Sox2^tm2Lpev/Sox2^tm3Lpev	involves: 129S/SvEv * C57BL/6	MGI:3811293
cn5	Sox2^tm2Lpev/Sox2^tm2Lpev Tg(Pax6-cre,GFP)2Pgr/?	involves: 129S/SvEv	MGI:3625927
cn6	Sox2^tm2Lpev/Sox2^tm2.1Lpev Tg(Pax6-cre,GFP)2Pgr/?	involves: 129S/SvEv	MGI:3713886
cn7	Sox2^tm1Lpev/Sox2^tm2Lpev Tg(Pax6-cre,GFP)2Pgr/?	involves: 129S/SvEv	MGI:3625926

Genotype
MGI:3625904

hm1

• Allelic Composition: Sox2^tm2Lpev/Sox2^tm2Lpev
• 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:3625903

ht2

• Allelic Composition: Sox2^tm2Lpev/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:3811292

ht3

• 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:3811293

ht4

• Allelic Composition: Sox2^tm2Lpev/Sox2^tm3Lpev
• 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

digestive/alimentary phenotype ( J:122531 )

N • despite respiratory distress and air in their stomachs, mice do not exhibit even a small tracheoesophageal fistula

abnormal esophagus morphology ( J:122531 )

• 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 )

• the esophagus is thinner than in wild-type mice and not squamous

abnormal salivary gland morphology ( J:122531 )

• mice lack serous- and mucous-secreting glands in the posterior tongue and soft palate

abnormal Ebner's gland morphology ( J:122531 )

• while the circumvallate papilla is present, Ebner's glands are not branched

absent anterior lingual gland ( J:122531 )

absent palatine gland ( J:122531 )

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 epiglottis morphology ( J:122531 )

• the epiglottis is abnormally positioned relative to the soft palate

respiratory system

respiratory system phenotype ( J:122531 )

N • despite respiratory distress and air in their stomachs, mice do not exhibit even a small tracheoesophageal fistula

abnormal epiglottis morphology ( J:122531 )

• the epiglottis is abnormally positioned relative to the soft palate

respiratory distress ( J:122531 )

• at P0, mice exhibit labored breathing

skeleton

abnormal epiglottis morphology ( J:122531 )

• the epiglottis is abnormally positioned relative to the soft palate

endocrine/exocrine glands

abnormal salivary gland morphology ( J:122531 )

• mice lack serous- and mucous-secreting glands in the posterior tongue and soft palate

abnormal Ebner's gland morphology ( J:122531 )

• while the circumvallate papilla is present, Ebner's glands are not branched

absent anterior lingual gland ( J:122531 )

absent palatine gland ( J:122531 )

Genotype
MGI:3625927

cn5

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

vision/eye

abnormal retina progenitor cell morphology ( J:108452 )

• the loss of general retinal progenitor cell characteristics as determined by retinal differentiation makers

abnormal eye size ( J:108452 )

• retinas are significantly smaller in size compared with Sox2^tm2Lpev/Sox2⁺ with a transgene control note: marked reduction of cell proliferation in the distal retina by E13.5

Genotype
MGI:3713886

cn6

• Allelic Composition: Sox2^tm2Lpev/Sox2^tm2.1Lpev; Tg(Pax6-cre,GFP)2Pgr/?
• Genetic Background: involves: 129S/SvEv

vision/eye

abnormal retina morphology ( J:108452 )

• at E13.5, retinas are significantly smaller than Sox2^tm2Lpev Tg(Pax6-cre,GFP)2Pgr heterozygotes

• retinal proliferation is reduced and differentiation marked by Math5, NeuroD, and beta-TubulinIII staining is absent

retina hypoplasia ( J:108452 )

Genotype
MGI:3625926

cn7

• 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