Mutations within Sox2/SOX2
are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
J. Clin. Invest. Daniel Kelberman, et al. 116:2442 doi:10.1172/JCI28658 [
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Figure 2Sox2 expression and abnormal morphogenesis of the pituitary in
Sox2
heterozygotes.
(
A) Sagittal section of an 11.5-dpc wild-type embryo hybridized to
Sox2, showing expression in both the CNS and Rathke’s pouch. (
B and
C) Sagittal sections of 12.5 dpc wild-type (
B) and
Sox2 heterozygous (
C) embryos, showing bifurcation of the pouch in the mutant embryo. (
D and
E) Pituitary transverse sections of 5-week-old wild-type (
D) and
Sox2 heterozygous mice (
E). Note the presence of an extra cleft in the
Sox2 heterozygous pituitary (arrow). HYP, presumptive hypothalamus; RP, Rathke’s pouch. Scale bars: 0.1 mm.