Abstract

In mice, as in other mammals, males are the heterogametic sex and produce sperm bearing either an X or a Y chromosome. Consequently, chromosomal sex is set at fertilization. Gonadal sex is set during mid gestation in the mouse, leading to development of either ovaries or testes, and is driven by the presence or absence of certain functional genes, in particular, Sry on the Y chromosome. Absence of one or more of these genes results in the development of ovaries in individuals beating a Y chromosome. Translocation of Sry to the X chromosome results in the development of testes in XX Sry individuals. Gonadal sex usually determines phenotypic sex and refers to the pattern of development of the reproductive tract and secondary sex characteristics. The development of female characteristics is the default; hormones from the testis are required for the development of a male reproductive tract and secondary sex characteristics. Failure to produce these hormones in downstream signaling pathways results in developing XY individuals with ambiguous or female phenotypic sex characteristics.

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