Gonadal effects of a mouse Denys-Drash syndrome mutation

C E Patek, P T K Saunders, C G Miles, R L Berry, N D Hastie, R M Sharpe, M L Hooper

Research output: Contribution to journalArticlepeer-review


Gonadal effects of the Denys-Drash syndrome (DDS) mutation Wt1(tmT396 )were examined in chimaeric and heterozygous mice. Since the only heterozygote was 41,XXY, Sertoli cell function was assessed by comparison with age-matched control XXY testes. Control XXY Sertoli cells showed immuno-expression of WT1 and androgen receptor (AR) indistinguishable from wild-type (40,XY), but expressed anti-Mullerian hormone (AMH). In contrast, DDS Sertoli cells showed only faint immuno-expression of WT1 and did not express AR or AMH. While XYXY DDS chimaeras were male, XXXY chimaeras were predominantly female. In the rare XXXY DDS males the Sertoli cell lineage was largely derived from Wt1 mutant XY cells. We conclude that DDS mutant cells can form Sertoli cells, that the dominant mutation does not cause male sex reversal in mice but distorts the sex ratio of XXXY chimaeras, and that there may be a link between WT1, AMH and AR expression by Sertoli cells in vivo.
Original languageEnglish
Pages (from-to)691-702
Number of pages12
JournalTransgenic Research
Issue number5
Publication statusPublished - Oct 2005


  • Animals
  • Anti-Mullerian Hormone
  • Chimera
  • Denys-Drash Syndrome
  • Disease Models, Animal
  • Female
  • Gene Expression
  • Glycoproteins
  • Heterozygote
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred CBA
  • Mice, Transgenic
  • Mutation
  • Receptors, Androgen
  • Sertoli Cells
  • Sex Ratio
  • Testicular Hormones
  • Testis
  • WT1 Proteins


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