Steroid deficiency syndromes in mice with targeted disruption of Cyp11a1

Meng Chun Hu, Nai Chi Hsu, Noomen Ben El Hadj, Chin I. Pai, Hsueh Ping Chu, Chi Kuang Leo Wang, Bon Chu Chung

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108 Citations (Scopus)

Abstract

Steroid deficiencies are diseases affecting salt levels, sugar levels, and sexual differentiation. To study steroid deficiency in more detail, we used a gene-targeting technique to insert a neo gene into the first exon to disrupt Cyp11a1, the first gene in steroid biosynthetic pathways. Cyp11a1 null mice do not synthesize steroids. They die shortly after birth, but can be rescued by steroid injection. Due to the lack of feedback inhibition by glucocorticoid, their circulating ACTH levels are exceedingly high; this results in ectopic Cyp21 gene expression in the testis. Male Cyp11a1 null mice are feminized with female external genitalia and underdeveloped male accessory sex organs. Their testis, epididymis, and vas deferens are present, but undersized. In addition, their adrenals and gonads accumulate excessive amounts of lipid. The lack of steroid production, abnormal gene expression, and aberrant reproductive organ development resemble various steroid deficiency syndromes, making these mice good models for studies of steroid function and regulation.

Original languageEnglish
Pages (from-to)1943-1950
Number of pages8
JournalMolecular Endocrinology
Volume16
Issue number8
DOIs
Publication statusPublished - Aug 10 2002

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Endocrinology

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    Hu, M. C., Hsu, N. C., Hadj, N. B. E., Pai, C. I., Chu, H. P., Wang, C. K. L., & Chung, B. C. (2002). Steroid deficiency syndromes in mice with targeted disruption of Cyp11a1. Molecular Endocrinology, 16(8), 1943-1950. https://doi.org/10.1210/me.2002-0055