Phenotypes associated with this allele

• Allele Symbol: Sox2^tm3Lpev
• Allele Name: targeted mutation 3, Larysa H Pevny
• Allele ID: MGI:3625177
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox2^tm3Lpev/Sox2^tm3Lpev	involves: 129S/SvEv	MGI:3625913
ht2	Sox2^tm3Lpev/Sox2^+	involves: 129S/SvEv	MGI:3625909
ht3	Sox2^tm1Lpev/Sox2^tm3Lpev	involves: 129S/SvEv	MGI:3625924
ht4	Sox2^tm2Lpev/Sox2^tm3Lpev	involves: 129S/SvEv * C57BL/6	MGI:3811293

Genotype
MGI:3625913

hm1

• Allelic Composition: Sox2^tm3Lpev/Sox2^tm3Lpev
• 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:3625909

ht2

• Allelic Composition: Sox2^tm3Lpev/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:3625924

ht3

• 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: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 )