Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice

Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8787-91. doi: 10.1073/pnas.88.19.8787.

Abstract

A genetic analysis is necessary to gain a greater understanding of the complex developmental processes in mammals. Toward this end, an insertional transgenic mouse mutant has been isolated that results in abnormal germ-cell development. This recessive mutation manifests as infertility in both males and females and is specific for the reproductive organs, since all other tissues examined were histologically normal. A developmental analysis of the gonadal tissues demonstrated that the germ cells were specifically depleted as early as day 11.5 of embryonic development, while the various somatic cells were apparently unaffected. Therefore, the mutated locus must play a critical role in the migration/proliferation of primordial germ cells to the genital ridges of developing embryos. In addition, females homozygous for the mutation could potentially be a valuable animal model of a human syndrome, premature ovarian failure. This mutation has been named germ-cell deficient, gcd.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Female
  • Germ Cells / cytology*
  • Globins / genetics
  • Heterozygote
  • Homozygote
  • Infertility / genetics*
  • Infertility / pathology
  • Male
  • Mice
  • Mice, Transgenic
  • Ovary / embryology
  • Ovary / pathology
  • Restriction Mapping
  • Spermatogenesis
  • Testis / embryology
  • Testis / pathology

Substances

  • Globins