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Related Experiment Videos

New mutation causing sterility in the mouse.

M A Handel1, P W Lane, A C Schroeder

  • 1Jackson Laboratory, Bar Harbor, Maine.

Gamete Research
|December 1, 1988
PubMed
Summary
This summary is machine-generated.

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A new mutation called skeletal fusions with sterility (sks) causes male sterility and female infertility in mice. This genetic mutation also leads to skeletal abnormalities, including fused vertebrae and ribs.

Area of Science:

  • Genetics
  • Developmental Biology
  • Reproductive Biology

Background:

  • Sterility and skeletal abnormalities can arise from genetic mutations affecting crucial developmental pathways.
  • Understanding the genetic basis of these conditions is vital for reproductive health and developmental studies.

Purpose of the Study:

  • To identify and characterize a novel murine mutation, skeletal fusions with sterility (sks).
  • To investigate the effects of the sks mutation on male and female reproductive systems.
  • To map the genetic locus of the sks mutation.

Main Methods:

  • Identification and phenotypic analysis of the sks murine model.
  • Meiotic analysis of spermatogenic cells.
  • In vitro oocyte maturation and fertilization assays.

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  • Genetic mapping of the sks gene.

    • Main Results:

    • The sks mutation causes arrest at the pachytene stage of spermatogenesis, leading to male sterility.
    • Defects in chromosome pairing and synaptonemal complex formation were observed but not deemed the primary cause of sterility.
    • Affected females are infertile, with oocytes capable of in vitro maturation but not fertilization.
    • Skeletal abnormalities, including vertebral and rib fusions, are present in both sexes.
    • The sks gene was mapped to Chromosome 4, 16.6 cM distal to the brown locus.

    Conclusions:

    • The sks mutation disrupts male meiosis and causes infertility in both sexes.
    • Skeletal fusions are a characteristic phenotype associated with the sks mutation.
    • The sks gene is located on Chromosome 4, providing a basis for further molecular investigation.