Phenotypes associated with this allele

• Allele Symbol: Sox2^tm1Rlb
• Allele Name: targeted mutation 1, Robin Lovell-Badge
• Allele ID: MGI:2449045
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox2^tm1Rlb/Sox2^tm1Rlb	either: (involves: 129S/SvEv) or (involves: 129S/SvEv * MF1)	MGI:3582635
ht2	Sox2^tm1Rlb/Sox2^+	involves: 129S/SvEv	MGI:3582633
ht3	Sox2^tm1Rlb/Sox2^+	involves: 129S/SvEv * MF1	MGI:3582634
ht4	Sox2^lcc/Sox2^tm1Rlb	involves: 101/H * 129S/SvEv * C3H/HeH	MGI:3582625
ht5	Sox2^tm1Rlb/Sox2^ysb	involves: 129S/SvEv * C57BL/6 * CBA	MGI:3582624
cn6	Cdk12^tm1.1Mjfn/Cdk12^tm1.2Mjfn Sox2^tm1Rlb/Sox2^+	involves: 129S/SvEv * FVB/N	MGI:5906660

Genotype
MGI:3582635

hm1

• Allelic Composition: Sox2^tm1Rlb/Sox2^tm1Rlb
• Genetic Background: either: (involves: 129S/SvEv) or (involves: 129S/SvEv * MF1)

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:81180 )

• die shortly after implantation

embryo

abnormal ectoderm development ( J:81180 )

• epithelial cells of the epiblast were absent

• Oct4 expression was absent in mutant embryonic epiblast

• H19 expression was similar to controls indicating that the specification of extraembryonic lineages was not affected

• a normal ICM is developed, but the cells of the epiblast are not maintained

• cultured embryos also do not express markers of the epiblast and these cells appear to develop into trophoblast cells instead of epiblast

absent egg cylinders ( J:81180 )

• no egg cylinder structure was present including the extraembryonic portion

absent ectoplacental cone ( J:81180 )

• no recognizable structure was present

Genotype
MGI:3582633

ht2

• 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:3582634

ht3

• 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:3582625

ht4

• Allelic Composition: Sox2^lcc/Sox2^tm1Rlb
• Genetic Background: involves: 101/H * 129S/SvEv * C3H/HeH

mortality/aging

postnatal lethality ( J:98458 )

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:98458 )

• truncated semicircular canals

small utricle ( J:98458 )

small vestibular saccule ( J:98458 )

abnormal sulcus ampullaris morphology ( J:98458 )

• absent ampullae

Genotype
MGI:3582624

ht5

• Allelic Composition: Sox2^tm1Rlb/Sox2^ysb
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

behavior/neurological

circling ( J:98458 )

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:98458 )

• truncated semicircular canals

abnormal vestibular saccule morphology ( J:98458 )

abnormal sulcus ampullaris morphology ( J:98458 )

• absent ampullae

deafness ( J:98458 )

pigmentation

yellow coat color ( J:98458 )

integument

yellow coat color ( J:98458 )

Genotype
MGI:5906660

cn6

• 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