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Gene Review:

Ods - ocular degeneration with sex reversal

Mus musculus

Qin, Y. et al., Qin, Y. et al., Bishop, C.E. et al., Qin, Y. et al.

Bishop, Whitworth, Qin, Agoulnik, Agoulnik, Harrison, Behringer, Overbeek,

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Disease relevance of Ods

This mutation causes female to male sex reversal in XX Ods/+ mice, and a characteristic eye phenotype of microphthalmia with cataracts in all mice carrying the transgene [1].

High impact information on Ods

During embryogenesis, wild-type XX fetal gonads downregulate Sox9 expression, whereas XY and XX Ods/+ fetal gonads upregulate and maintain its expression [2].
To test whether SOX9 was sufficient to generate a fully fertile male in the absence of Sry, we constructed an XY(Sry(-))Ods/+ male mouse, in which the male phenotype is controlled autosomally by the Ods mutation [3].
Increasing the amount of SOX9 by producing homozygous XY(Sry-)Ods/Ods males was able to completely rescue the phenotype and restore correct vascular patterning and long-term fertility [3].
A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice [4].
Segregation at this locus could account for the presence of sex reversal in 100% of XX Ods/+ mice which develop as males, for the absence of sex reversal in approximately 92% of XX Ods/+ mice which develop as females, and for the mixed sexual phenotype in approximately 72% of XX Ods/+ mice that develop with ambiguous genitalia [4].

Anatomical context of Ods

We propose that Ods has removed a long-range, gonad-specific regulatory element that mediates the repression of Sox9 expression in XX fetal gonads [2].

Other interactions of Ods

Long-range activation of Sox9 in Odd Sex (Ods) mice [1].

References

Long-range activation of Sox9 in Odd Sex (Ods) mice. Qin, Y., Kong, L.K., Poirier, C., Truong, C., Overbeek, P.A., Bishop, C.E. Hum. Mol. Genet. (2004) [Pubmed]
A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse. Bishop, C.E., Whitworth, D.J., Qin, Y., Agoulnik, A.I., Agoulnik, I.U., Harrison, W.R., Behringer, R.R., Overbeek, P.A. Nat. Genet. (2000) [Pubmed]
Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry. Qin, Y., Bishop, C.E. Hum. Mol. Genet. (2005) [Pubmed]
A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice. Qin, Y., Poirier, C., Truong, C., Schumacher, A., Agoulnik, A.I., Bishop, C.E. Hum. Mol. Genet. (2003) [Pubmed]

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