Phenotypes associated with this allele

• Allele Symbol: Sox3^tm1Rlb
• Allele Name: targeted mutation 1, Robin Lovell-Badge
• Allele ID: MGI:3036671
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox3^tm1Rlb/Sox3^tm1Rlb	involves: 129S7/SvEvBrd * MF1	MGI:3036866
ht2	Sox3^tm1Rlb/Sox3^+	involves: 129S7/SvEvBrd * MF1	MGI:3036867
ot3	Sox3^tm1Rlb/Y	involves: 129S7/SvEvBrd * MF1	MGI:3036868

Genotype
MGI:3036866

hm1

• Allelic Composition: Sox3^tm1Rlb/Sox3^tm1Rlb
• Genetic Background: involves: 129S7/SvEvBrd * MF1

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

mortality/aging

postnatal lethality ( J:88507 )

♀ • a portion of mice died prior to weaning

endocrine/exocrine glands

abnormal pituitary gland morphology ( J:88507 )

♀ • varying degrees of penetrance observed

♀ • all three pituitary lobes are present at birth

abnormal Rathke's pouch development ( J:88507 )

♀ • varying degrees of penetrance observed

♀ • altered development leading to the defects including disorganization and abnormalities of Rathke's pouch

♀ • bifurcation of Rathke's pouch and the presence of extra Rathke's pouch clefts and linings

bifurcated Rathke's pouch ( J:88507 )

♀

increased atretic ovarian follicle number ( J:88507 )

♀ • increased number of atretic follicles

small ovary ( J:88507 )

♀ • observed in some females and containing atretic follicles

reproductive system

reproductive system phenotype ( J:88507 )

♀N • normal sex determination

increased atretic ovarian follicle number ( J:88507 )

♀ • increased number of atretic follicles

small ovary ( J:88507 )

♀ • observed in some females and containing atretic follicles

nervous system

abnormal brain commissure morphology ( J:88507 )

♀

abnormal corpus callosum morphology ( J:88507 )

♀ • dysgenesis observed in the most severely affected mice

abnormal hippocampal commissure morphology ( J:88507 )

♀ • failure of the dorsal hippocampal commissure to cross the midline in the most severely affected mice

abnormal diencephalon morphology ( J:88507 )

♀ • the floor plate was expanded relative to that of wild-type

abnormal pituitary gland morphology ( J:88507 )

♀ • varying degrees of penetrance observed

♀ • all three pituitary lobes are present at birth

abnormal Rathke's pouch development ( J:88507 )

♀ • varying degrees of penetrance observed

♀ • altered development leading to the defects including disorganization and abnormalities of Rathke's pouch

♀ • bifurcation of Rathke's pouch and the presence of extra Rathke's pouch clefts and linings

bifurcated Rathke's pouch ( J:88507 )

♀

abnormal third ventricle morphology ( J:88507 )

♀ • abnormal continuity of the intercerebral fissure with the third ventricle in the most severely affected mice

abnormal hypothalamus morphology ( J:88507 )

♀ • the presumptive hypothalamus appeared thinner and shorter than that of wild-type embryos

Genotype
MGI:3036867

ht2

• Allelic Composition: Sox3^tm1Rlb/Sox3⁺
• Genetic Background: involves: 129S7/SvEvBrd * MF1

craniofacial

abnormal craniofacial morphology ( J:88507 )

♀ • incomplete penetrance, putatively due ot mosaic expression

Genotype
MGI:3036868

ot3

• Allelic Composition: Sox3^tm1Rlb/Y
• Genetic Background: involves: 129S7/SvEvBrd * MF1

mortality/aging

postnatal lethality, incomplete penetrance ( J:88507 )

♂ • incomplete penetrance

♂ • whereas approximately one-third of males appeared healthy, others showed growth retardation, weakness, craniofacial defecfs, and died prior to weaning

craniofacial

abnormal craniofacial morphology ( J:88507 )

♂ • incomplete penetrance

endocrine/exocrine glands

abnormal pituitary gland morphology ( J:88507 )

♂ • varying degrees of penetrance observed

♂ • all three pituitary lobes are present at birth

abnormal Rathke's pouch development ( J:88507 )

♂ • varying degrees of penetrance observed

♂ • altered development leading to the defects including disorganization and abnormalities of Rathke's pouch

♂ • bifurcation of Rathke's pouch and the presence of extra Rathke's pouch clefts and linings

bifurcated Rathke's pouch ( J:88507 )

♂

abnormal testis morphology ( J:88507 )

♂ • increased necrosis and empty tubules in the most severely affected mice

growth/size/body

postnatal growth retardation ( J:88507 )

♂ • incomplete penetrance

♂ • some males showed decreased growth and general weaknesss, these mice did not survive to weaning

reproductive system

abnormal testis morphology ( J:88507 )

♂ • increased necrosis and empty tubules in the most severely affected mice

nervous system

abnormal brain commissure morphology ( J:88507 )

♂

abnormal corpus callosum morphology ( J:88507 )

♂ • dysgenesis observed in the most severely affected mice

abnormal hippocampal commissure morphology ( J:88507 )

♂ • failure of the dorsal hippocampal commissure to cross the midline in the most severely affected mice

abnormal diencephalon morphology ( J:88507 )

♂ • the floor plate was expanded relative to that of wild-type

abnormal pituitary gland morphology ( J:88507 )

♂ • varying degrees of penetrance observed

♂ • all three pituitary lobes are present at birth

abnormal Rathke's pouch development ( J:88507 )

♂ • varying degrees of penetrance observed

♂ • altered development leading to the defects including disorganization and abnormalities of Rathke's pouch

♂ • bifurcation of Rathke's pouch and the presence of extra Rathke's pouch clefts and linings

bifurcated Rathke's pouch ( J:88507 )

♂

abnormal third ventricle morphology ( J:88507 )

♂ • abnormal continuity of the intercerebral fissure with the third ventricle in the most severely affected mice

abnormal hypothalamus morphology ( J:88507 )

♂ • the presumptive hypothalamus appeared thinner and shorter than that of wild-type embryos

homeostasis/metabolism

decreased follicle stimulating hormone level ( J:88507 )

♂ • in the pituitary

decreased growth hormone level ( J:88507 )

♂ • in the pituitary

decreased thyroid-stimulating hormone level ( J:88507 )

♂ • in the pituitary