Phenotypes for Sox2 MGI:3582634 MGI Mouse

oligozoospermia ( J:114458 )

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

postnatal lethality, incomplete penetrance ( J:114458 )

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

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)

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

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

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