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 3
Testes morphology of
Sox2+/–
males.
(
A) Testis of an 11-month-old wild-type mouse. (
B) Histological analysis of the testis shown in
A. All the different stages of germ cells are present within the seminiferous tubules. (
C) Testis of an 11-month-old
Sox2+/– mouse showing reduced size and white opaque patches, indicative of sperm blockage. This was confirmed by histological analysis (
D), where aberrant tubules were seen that contained very large numbers of mature sperm only, instead of a range of spermatogenic stages (arrow). The somatic cells also looked abnormal in these tubules. Scale bars: 1,260 μm (
A and
C); 55 μm (
B); 42 μm (
D).