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Related Experiment Videos

Symplastic spermatids (sys): a recessive insertional mutation in mice causing a defect in spermatogenesis.

G R MacGregor1, L D Russell, M E Van Beek

  • 1Department of Cell Biology, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030.

Proceedings of the National Academy of Sciences of the United States of America
|July 1, 1990
PubMed
Summary

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A new transgenic mouse model reveals a gene essential for male fertility. Homozygous males are sterile due to abnormal spermatid development, impacting spermatogenesis.

Area of Science:

  • Reproductive Biology
  • Genetics
  • Developmental Biology

Background:

  • Spermatogenesis is a complex process crucial for male fertility.
  • Understanding the genetic regulation of spermatogenesis is vital for reproductive health.
  • Insertional mutagenesis in transgenic mice is a powerful tool for identifying genes involved in biological processes.

Purpose of the Study:

  • To describe a novel transgenic mouse line with an insertional mutation affecting spermatogenesis.
  • To identify and characterize a gene essential for male fertility.
  • To map the genetic locus of the mutation.

Main Methods:

  • Generation of transgenic mice with an insertional mutation.
  • Phenotypic analysis of homozygous and heterozygous mice for fertility and sperm development.

Related Experiment Videos

  • Cloning of the transgene integration site flank and genetic mapping to mouse chromosome 14.

    • Main Results:

    • Homozygous males are sterile, exhibiting abnormal multinucleated syncytia (symplasts) during spermatid development.
    • Female homozygotes and heterozygotes (male and female) show normal fertility.
    • Abnormal cytoplasmic vacuolation observed in Sertoli cells of homozygous males.
    • The mutation, named "symplastic spermatids" (sys), was mapped to mouse chromosome 14, proximal to the esterase-10 (Es-10) gene.

    Conclusions:

    • The transgenic insert disrupts a previously unidentified gene essential for spermatogenesis.
    • The 'symplastic spermatids' (sys) mutation provides a new model for studying male infertility.
    • The identified gene is located on mouse chromosome 14 and plays a critical role in male germ cell maturation.