Phenotypes associated with this allele

• Allele Symbol: Sox2^tm1.1Vep
• Allele Name: targeted mutation 1.1, Vasso Episkopou
• Allele ID: MGI:3701965
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sox2^tm1.1Vep/Sox2^+	Not Specified	MGI:3702610
ht2	Sox2^tm1.1Vep/Sox2^tm1.2Vlcg	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NTac	MGI:5464914
cx3	Pax6^Sey-Neu/Pax6^+ Sox2^tm1.1Vep/Sox2^+	involves: 102 * C3H * C3H/HeN	MGI:3771033
cx4	Pou2f1^tm1Shrp/Pou2f1^tm1Shrp Sox2^tm1.1Vep/Sox2^+	involves: 129S4/SvJae * C3H/HeN * C57BL/6	MGI:6159075
cx5	Pou2f1^tm1Shrp/Pou2f1^+ Sox2^tm1.1Vep/Sox2^+	involves: 129S4/SvJae * C3H/HeN * C57BL/6	MGI:6159076

Genotype
MGI:3702610

ht1

• Allelic Composition: Sox2^tm1.1Vep/Sox2⁺
• Genetic Background: Not Specified

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

normal phenotype

no abnormal phenotype detected ( J:99610 )

• mice are viable and fertile, with no phenotypic abnormalities

Genotype
MGI:5464914

ht2

• Allelic Composition: Sox2^tm1.1Vep/Sox2^tm1.2Vlcg
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NTac

Sox2^tm1.2Vlcg/Sox2^tm1.2Vlcg and Sox2^tm1.1Vep/Sox2^tm1.2Vlcg embryos form disorganized extraembryonic tissues, but fail to form the epiblast, phenocopying Sox2^tm1.1Vep/Sox2^tm1.1Vep embryos

mortality/aging

embryonic lethality between implantation and placentation, complete penetrance ( J:191980 )

• shortly after implantation

embryo

absent embryonic epiblast ( J:191980 )

• lack the epithelial cells typical of epiblast

absent egg cylinders ( J:191980 )

increased trophoblast giant cell number ( J:191980 )

Genotype
MGI:3771033

cx3

• Allelic Composition: Pax6^Sey-Neu/Pax6⁺; Sox2^tm1.1Vep/Sox2⁺
• Genetic Background: involves: 102 * C3H * C3H/HeN

vision/eye

abnormal lens morphology ( J:119175 )

• at E11.5, lens dysmorphia is observed but is no more severe than in Pax6^Sey-Neu heterozygotes

Genotype
MGI:6159075

cx4

• Allelic Composition: Pou2f1^tm1Shrp/Pou2f1^tm1Shrp; Sox2^tm1.1Vep/Sox2⁺
• Genetic Background: involves: 129S4/SvJae * C3H/HeN * C57BL/6

craniofacial

absent nasal placodes ( J:119175 )

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:119175 )

• mice show dysmorphology of the adenohypophysis

abnormal pituitary diverticulum morphology ( J:119175 )

• dysmorphology is observed in some embryos

nervous system

abnormal adenohypophysis morphology ( J:119175 )

• mice show dysmorphology of the adenohypophysis

abnormal pituitary diverticulum morphology ( J:119175 )

• dysmorphology is observed in some embryos

respiratory system

absent nasal placodes ( J:119175 )

taste/olfaction

absent nasal placodes ( J:119175 )

vision/eye

abnormal lens morphology ( J:119175 )

• at E12.5, lenses are dysmorphic or absent

• peri-ocular region in severely affected animals resembles Pax6^Sey homozygous mice while mildly affected mutants show a similar phenotype to Pax6^Sey heterozygous mice

abnormal eye development ( J:119175 )

• ocular region is not evident at E10.5; ocular region resembles that seen in Pax6^Sey

abnormal lens induction ( J:119175 )

• lens placode induction shows severe defects

microphthalmia ( J:119175 )

• embryos generally exhibit microphthalmia in one eye and anophthalmia in the other

anophthalmia ( J:119175 )

• embryos generally exhibit anophthalmia in one eye and microphthalmia in the other

Genotype
MGI:6159076

cx5

• Allelic Composition: Pou2f1^tm1Shrp/Pou2f1⁺; Sox2^tm1.1Vep/Sox2⁺
• Genetic Background: involves: 129S4/SvJae * C3H/HeN * C57BL/6

vision/eye

abnormal lens morphology ( J:119175 )

• lens dysmorphology due to reduced Pax6 dosage; degree of dysmorphology is not exacerbated by reduction of Sox2 dosage

• at E12.5, lenses are normal