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Related Experiment Videos

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

C Chiang1, Y Litingtung, E Lee

  • 1Laboratory of Mammalian Genes and Development, National Institute of Health, Bethesda, Maryland 20892, USA. chiangc@dir6.nichd.nih.gov

Nature
|October 3, 1996
PubMed
Summary

Targeted gene disruption in mice reveals the Sonic hedgehog (Shh) gene is crucial for vertebrate embryonic development. Shh protein acts as an extracellular signal essential for organizing various embryonic tissues and structures.

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Area of Science:

  • Developmental Biology
  • Genetics
  • Molecular Biology

Background:

  • The Sonic hedgehog (Shh) gene is a signaling molecule implicated in embryonic development.
  • Understanding Shh's precise role is vital for comprehending vertebrate patterning.

Purpose of the Study:

  • To investigate the function of the Sonic hedgehog (Shh) gene in vertebrate embryonic development through targeted gene disruption in mice.
  • To elucidate the role of Shh signaling in the patterning of central nervous system, axial skeleton, and limbs.

Main Methods:

  • Targeted gene disruption (gene knockout) in mouse models.
  • Analysis of embryonic phenotypes resulting from Shh gene inactivation.

Main Results:

  • Shh gene disruption leads to severe defects in midline structures like the notochord and floorplate.

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  • Absence of distal limb structures, cyclopia, and ventral neural tube cell types were observed.
  • Loss of the spinal column and ribs occurred, with defects extending beyond Shh transcription sites.

    • Conclusions:

    • The Sonic hedgehog (Shh) gene is indispensable for the proper patterning of diverse vertebrate embryonic tissues.
    • Shh protein functions as a critical extracellular signal mediating tissue organization in multiple patterning centers.