Phenotypes associated with this allele

• Allele Symbol: Sox2⁺
• Allele Name: wild type
• Allele ID: MGI:2431976
• Summary: 22 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sox2^em1(IMPC)Mbp/Sox2^+	C57BL/6N-Sox2^em1(IMPC)Mbp/MbpMmucd	MGI:6493120
ht2	Sox2^lcc/Sox2^+	involves: 101/H * C3H/HeH	MGI:3582558
ht3	Sox2^tm3(TK)Hoch/Sox2^+	involves: 129S4/SvJae * C57BL/6	MGI:5296941
ht4	Sox2^tm1.2Vlcg/Sox2^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NTac	MGI:5464912
ht5	Sox2^tm2Lpev/Sox2^+	involves: 129S/SvEv	MGI:3625903
ht6	Sox2^tm1Rlb/Sox2^+	involves: 129S/SvEv	MGI:3582633
ht7	Sox2^tm4Lpev/Sox2^+	involves: 129S/SvEv	MGI:3625916
ht8	Sox2^tm3Lpev/Sox2^+	involves: 129S/SvEv	MGI:3625909
ht9	Sox2^tm1Rlb/Sox2^+	involves: 129S/SvEv * MF1	MGI:3582634
ht10	Sox2^ysb/Sox2^+	involves: C57BL/6 * CBA	MGI:3582555
ht11	Sox2^tm1Vep/Sox2^+	Not Specified	MGI:3702611
ht12	Sox2^tm1Lpev/Sox2^+	Not Specified	MGI:3625902
ht13	Sox2^tm1.1Vep/Sox2^+	Not Specified	MGI:3702610
cn14	Rb1^tm3Tyj/Rb1^+ Sox2^tm4.1Skn/Sox2^+ Trp53^tm1Brn/Trp53^tm1Brn Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129 * C57BL/6 * CD-1	MGI:7484197
cn15	Ctnnb1^tm1Mmt/Ctnnb1^+ Sox2^tm1.1(cre/ERT2)Jpmb/Sox2^+	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6	MGI:5512969
cn16	Gas2^tm1c(EUCOMM)Hmgu/Gas2^tm1c(EUCOMM)Hmgu Sox2^tm1(cre/ERT2)Hoch/Sox2^+	involves: 129S4/SvJae * C57BL/6 * C57BL/6N	MGI:7282238
cn17	Cdk12^tm1.1Mjfn/Cdk12^tm1.2Mjfn Sox2^tm1Rlb/Sox2^+	involves: 129S/SvEv * FVB/N	MGI:5906660
cx18	Pax6^Sey-Neu/Pax6^+ Sox2^tm1.1Vep/Sox2^+	involves: 102 * C3H * C3H/HeN	MGI:3771033
cx19	Pou2f1^tm1Shrp/Pou2f1^+ Sox2^tm1.1Vep/Sox2^+	involves: 129S4/SvJae * C3H/HeN * C57BL/6	MGI:6159076
cx20	Pou2f1^tm1Shrp/Pou2f1^tm1Shrp Sox2^tm1.1Vep/Sox2^+	involves: 129S4/SvJae * C3H/HeN * C57BL/6	MGI:6159075
cx21	Sox1^tm1Vep/Sox1^tm1Vep Sox2^tm1Vep/Sox2^+	involves: 129S/SvEv	MGI:3702617
cx22	Sox1^tm1Vep/Sox1^tm2Vep Sox2^tm1Vep/Sox2^+	involves: 129S/SvEv	MGI:3702615

Genotype
MGI:6493120

ht1

• Allelic Composition: Sox2^em1(IMPC)Mbp/Sox2⁺
• Genetic Background: C57BL/6N-Sox2^em1(IMPC)Mbp/MbpMmucd

Data Sources

IMPC Data for Sox2

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

behavior/neurological

enhanced contextual conditioning behavior ( J:211773 )

♂

IMPC - UCD

cardiovascular system

abnormal retina blood vessel morphology ( J:211773 )

IMPC - UCD

embryo

embryonic growth retardation ( J:211773 )

IMPC - UCD

growth/size/body

embryonic growth retardation ( J:211773 )

IMPC - UCD

nervous system

abnormal brain morphology ( J:211773 )

♂

IMPC - UCD

abnormal optic disk morphology ( J:211773 )

IMPC - UCD

vision/eye

abnormal retina blood vessel morphology ( J:211773 )

IMPC - UCD

abnormal optic disk morphology ( J:211773 )

IMPC - UCD

irregularly shaped pupil ( J:211773 )

♂

IMPC - UCD

Genotype
MGI:3582558

ht2

• Allelic Composition: Sox2^lcc/Sox2⁺
• Genetic Background: involves: 101/H * C3H/HeH

pigmentation

diluted coat color ( J:77358 )

behavior/neurological

head bobbing ( J:77358 )

• described as mild

integument

abnormal awl hair morphology ( J:77358 )

• reduced number of total awl hairs, and reduced frequency of black awls

diluted coat color ( J:77358 )

abnormal zigzag hair morphology ( J:77358 )

• increased number of zigzag hairs

Genotype
MGI:5296941

ht3

• Allelic Composition: Sox2^tm3(TK)Hoch/Sox2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

premature death ( J:177655 )

• when animals are implanted with a minipump delivering gancyclovir, mice become morbid after a week, and die within another weak

• Note: Mice become morbid after gancyclovir treatment for a week. If treatment is stopped, gradual recovery of animals over subsequent weeks is observed; umbers of Sox2-positive cells increase after 7 days and tongue, esophagus, and forestomach tissue examination show normal epithelialization of tissues with intact basal and differentiated cell layers.

cellular

decreased male germ cell number ( J:177655 )

♂

growth/size/body

decreased body size ( J:177655 )

• mice treated with gancyclovir for more than 7 days appear smaller in size than controls (possibly due to dehydration and problem with food absorption)

reproductive system

decreased male germ cell number ( J:177655 )

♂

small testis ( J:177655 )

♂ • 3 months following end of a 1-week gancyclovir treatment of 3- or 7-week old mice, testes appear smaller than wild-type with observation of more atrophic tubules completely devoid of spermatogonia and mature sperm

immune system

stomach inflammation ( J:177655 )

• occasional inflammation is observed in the forestomach

tongue inflammation ( J:177655 )

• occasional inflammation is observed in the tongue

homeostasis/metabolism

edema ( J:177655 )

• severe edema as well as atypical cells are observed in the forestomach and tongue

digestive/alimentary system

abnormal stomach morphology ( J:177655 )

• in morbid animals (treated with gancyclovir), loss of Sox2-positive layers closest to the basal layer is observed in the forestomach while the stratified layers remain intact

gastrointestinal ulcer ( J:177655 )

• necropsy of animals treated with gancyclovir for 13 days shows ulcers of the stomach and oral mucoa; these likely result in the observed morbidity and death

stomach inflammation ( J:177655 )

• occasional inflammation is observed in the forestomach

endocrine/exocrine glands

small testis ( J:177655 )

♂ • 3 months following end of a 1-week gancyclovir treatment of 3- or 7-week old mice, testes appear smaller than wild-type with observation of more atrophic tubules completely devoid of spermatogonia and mature sperm

Genotype
MGI:5464912

ht4

• Allelic Composition: Sox2^tm1.2Vlcg/Sox2⁺
• 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

normal phenotype

no abnormal phenotype detected ( J:191980 )

• mice exhibit no obvious phenotype

Genotype
MGI:3625903

ht5

• 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:3582633

ht6

• Allelic Composition: Sox2^tm1Rlb/Sox2⁺
• Genetic Background: involves: 129S/SvEv

reproductive system

reduced male fertility ( J:81180 )

♂ • Background Sensitivity: more severe than on outbred genetic background

Genotype
MGI:3625916

ht7

• 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:3625909

ht8

• 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:3582634

ht9

• Allelic Composition: Sox2^tm1Rlb/Sox2⁺
• Genetic Background: involves: 129S/SvEv * MF1

Male Sox2^tm1Rlb/Sox2⁺ mice exhibit small testes with sperm blockage in the seminiferous tubules

cellular

oligozoospermia ( J:114458 )

♂ • in some heterozygotes with sperm blockage in seminiferous tubules, epididymal sperm count is ~50% that of wild-type males

mortality/aging

postnatal lethality, incomplete penetrance ( J:114458 )

• about one-third of heterozygotes die between birth and weaning

reproductive system

oligozoospermia ( J:114458 )

♂ • in some heterozygotes with sperm blockage in seminiferous tubules, epididymal sperm count is ~50% that of wild-type males

abnormal seminiferous tubule morphology ( J:114458 )

♂ • some outbred heterozygotes display aberrant tubules with very large numbers of mature sperm only, instead of a range of spermatogenic stages; somatic cells appear abnormal in these tubules

small testis ( J:114458 )

♂ • occasionally, outbred male heterozygotes have smaller testes with sperm blockage in the seminiferous tubules

reduced male fertility ( J:81180 , J:114458 )

♂ • Background Sensitivity: variable penetrance and less severe than on inbred 129 genetic background (J:81180)

♂ • reduced male fertility is probably due to a primary defect in sperm motility and/or their ability to fertilize (J:114458)

growth/size/body

decreased body size ( J:114458 )

• some heterozygotes display a moderate and variable reduction in body size relative to wild-type littermates

• other heterozygotes are of normal body size, but still GH-deficient

homeostasis/metabolism

decreased adrenocorticotropin level ( J:114458 )

• at P7, heterozygotes show a significant reduction in pituitary ACTH levels relative to wild-type mice; however, no significant difference in ACTH content is noted in adult pituitaries, suggesting a loss of ACTH-deficient heterozygous pups

decreased growth hormone level ( J:114458 )

• at 2 months, male (but not female) heterozygotes show a moderate reduction of pituitary GH levels relative to wild-type males

• at E18.5, both male and female embryos show a significant reduction in pituitary GH content relative to wild-type embryos

• the GH deficit is comparable between E18.5 and adulthood and is also noted at P7

decreased luteinizing hormone level ( J:114458 )

• at 2 months, male (but not female) heterozygotes show a moderate reduction of pituitary LH levels relative to wild-type males

decreased prolactin level ( J:114458 )

• some adult heterozygotes display reduced pituitary prolactin levels

decreased thyroid-stimulating hormone level ( J:114458 )

• some adult heterozygotes display reduced pituitary TSH levels

endocrine/exocrine glands

abnormal pituitary gland morphology ( J:114458 )

• at 3 months, extra clefts are sometimes observed in heterozygous pituitary glands

• the region between the 2 clefts that histologically resembles the intermediate lobe is abnormally positive for both somatotropes and gonadotropes

abnormal adenohypophysis development ( J:114458 )

• at E18.5, some heterozygotes display abnormal anterior pituitary development

bifurcated Rathke's pouch ( J:114458 )

• at E12.5, one-third of heterozygotes display a bifurcated Rathke's pouch, consistent with an extra cleft observed in some adult mutants

decreased somatotroph cell number ( J:114458 )

• at E18.5, the number of somatotropes is significantly reduced

• the number of gonadotropes is reduced but the difference does not reach statistical significance; however, the number of endocrine cells is relatively normal in surviving (mildly affected) adults

small adenohypophysis ( J:114458 )

• at E18.5, the anterior lobe is reduced in size in some heterozygotes

abnormal seminiferous tubule morphology ( J:114458 )

♂ • some outbred heterozygotes display aberrant tubules with very large numbers of mature sperm only, instead of a range of spermatogenic stages; somatic cells appear abnormal in these tubules

small testis ( J:114458 )

♂ • occasionally, outbred male heterozygotes have smaller testes with sperm blockage in the seminiferous tubules

nervous system

abnormal pituitary gland morphology ( J:114458 )

• at 3 months, extra clefts are sometimes observed in heterozygous pituitary glands

• the region between the 2 clefts that histologically resembles the intermediate lobe is abnormally positive for both somatotropes and gonadotropes

abnormal adenohypophysis development ( J:114458 )

• at E18.5, some heterozygotes display abnormal anterior pituitary development

bifurcated Rathke's pouch ( J:114458 )

• at E12.5, one-third of heterozygotes display a bifurcated Rathke's pouch, consistent with an extra cleft observed in some adult mutants

decreased somatotroph cell number ( J:114458 )

• at E18.5, the number of somatotropes is significantly reduced

• the number of gonadotropes is reduced but the difference does not reach statistical significance; however, the number of endocrine cells is relatively normal in surviving (mildly affected) adults

small adenohypophysis ( J:114458 )

• at E18.5, the anterior lobe is reduced in size in some heterozygotes

digestive/alimentary system

digestive/alimentary phenotype ( J:114458 )

N • heterozygotes show no evidence of esophageal atresia at E14.5

vision/eye

vision/eye phenotype ( J:114458 )

N • surprisingly, heterozygotes display no ocular abnormalities

Genotype
MGI:3582555

ht10

• Allelic Composition: Sox2^ysb/Sox2⁺
• Genetic Background: involves: C57BL/6 * CBA

pigmentation

yellow coat color ( J:77358 )

• reduction in the number of black awls and increase in the proportion of agouti awls

integument

yellow coat color ( J:77358 )

• reduction in the number of black awls and increase in the proportion of agouti awls

Genotype
MGI:3702611

ht11

• Allelic Composition: Sox2^tm1Vep/Sox2⁺
• Genetic Background: Not Specified

normal phenotype

no abnormal phenotype detected ( J:99610 )

• mice are viable and fertile, with no phenotypic abnormalities; overexpression of Sox1 does not cause any abnormalities

Genotype
MGI:3625902

ht12

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

normal phenotype

no abnormal phenotype detected ( J:108452 )

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

Genotype
MGI:3702610

ht13

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

normal phenotype

no abnormal phenotype detected ( J:99610 )

• mice are viable and fertile, with no phenotypic abnormalities

Genotype
MGI:7484197

cn14

• Allelic Composition: Rb1^tm3Tyj/Rb1⁺; Sox2^tm4.1Skn/Sox2⁺; Trp53^tm1Brn/Trp53^tm1Brn; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: 129 * C57BL/6 * CD-1

mortality/aging

increased tumor-free survival time ( J:318885 )

• tumor free survival time is increased compared to mutant mice wild-type for Sox2

neoplasm

decreased osteosarcoma incidence ( J:318885 )

• compared to mutant mice wild-type for Sox2

• tumors are uniformly Sox2 positive

skeleton

decreased osteosarcoma incidence ( J:318885 )

• compared to mutant mice wild-type for Sox2

• tumors are uniformly Sox2 positive

Genotype
MGI:5512969

cn15

• Allelic Composition: Ctnnb1^tm1Mmt/Ctnnb1⁺; Sox2^{tm1.1(cre/ERT2)Jpmb}/Sox2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6

neoplasm

increased pituitary gland tumor incidence ( J:201265 )

• with 2 low doses of tamoxifen given at 6 weeks, most mice display obvious pituitary tumors between 3 and 5 months upon necropsy; pituitaries of remaining animals contained small tumors in the anterior lobe upon histological analysis

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:201265 )

• at E15.5, embryos show an enlarged anterior pituitary, with foci of accumulation of beta-catenin when tamoxifen induction is done at E10.5; clusters are observed to contain undifferentiated cells that do not express proliferation marker Ki67

increased pituitary gland tumor incidence ( J:201265 )

• with 2 low doses of tamoxifen given at 6 weeks, most mice display obvious pituitary tumors between 3 and 5 months upon necropsy; pituitaries of remaining animals contained small tumors in the anterior lobe upon histological analysis

nervous system

abnormal adenohypophysis morphology ( J:201265 )

• at E15.5, embryos show an enlarged anterior pituitary, with foci of accumulation of beta-catenin when tamoxifen induction is done at E10.5; clusters are observed to contain undifferentiated cells that do not express proliferation marker Ki67

increased pituitary gland tumor incidence ( J:201265 )

• with 2 low doses of tamoxifen given at 6 weeks, most mice display obvious pituitary tumors between 3 and 5 months upon necropsy; pituitaries of remaining animals contained small tumors in the anterior lobe upon histological analysis

Genotype
MGI:7282238

cn16

• Allelic Composition: Gas2^{tm1c(EUCOMM)Hmgu}/Gas2^{tm1c(EUCOMM)Hmgu}; Sox2^{tm1(cre/ERT2)Hoch}/Sox2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6N

hearing/vestibular/ear

abnormal pillar cell morphology ( J:306028 )

• progressive loss of pillar cell microtubules with age in tamoxifen-treated mice

increased or absent threshold for auditory brainstem response ( J:306028 )

• tamoxifen-treated mice show elevated auditory brainstem responses (ABR) across all frequencies tested at 2 months of age

abnormal distortion product otoacoustic emission ( J:306028 )

• distortion product otoacoustic emissions (DPOAEs) are reduced in tamoxifen-treated mice

impaired hearing ( J:306028 )

• tamoxifen-treated mice show hearing loss

Genotype
MGI:5906660

cn17

• Allelic Composition: Cdk12^tm1.1Mjfn/Cdk12^tm1.2Mjfn; Sox2^tm1Rlb/Sox2⁺
• Genetic Background: involves: 129S/SvEv * FVB/N

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:242195 )

• no mice are present at E6.5

Genotype
MGI:3771033

cx18

• 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:6159076

cx19

• 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

Genotype
MGI:6159075

cx20

• 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:3702617

cx21

• Allelic Composition: Sox1^tm1Vep/Sox1^tm1Vep; Sox2^tm1Vep/Sox2⁺
• Genetic Background: involves: 129S/SvEv

nervous system

abnormal olfactory cortex morphology ( J:99610 )

• olfactory tubercle (OT) region is compacted in absence of many Sox1 neurons

• neurons expressing Sox1 from the Sox2 locus migrate to the OT in absence of endogenous Sox1 expression; striatal bridges form

Genotype
MGI:3702615

cx22

• Allelic Composition: Sox1^tm1Vep/Sox1^tm2Vep; Sox2^tm1Vep/Sox2⁺
• Genetic Background: involves: 129S/SvEv

mortality/aging

premature death ( J:99610 )

• lethality associated with seizures is observed around weaning and is increased relative to Sox1-null mice

behavior/neurological

seizures ( J:99610 )

nervous system

seizures ( J:99610 )

abnormal olfactory cortex morphology ( J:99610 )

• embryos do not develop the olfactory tubercle (OT)

• at P10, OT neurons are detected in striatal mantle, but not in ventral striatum

vision/eye

microphthalmia ( J:99610 )

• mice are born with small eyes