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Somitogenesis pp 140–163Cite as

Mouse Mutations Disrupting Somitogenesis and Vertebral Patterning

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 638))

Abstract

The mouse was one of the first model organisms used in genetic analysis, beginning in 1902 with the studies of inheritance carried out by William E. Castle, Director of the Bussey Institute at Harvard1. The first mutations identified derived from mouse fanciers, who primarily selected coat color variants or neurobehavioral triats. However, disruptions affecting the axial skeleton were also reported early in the century. For example, the classic brachyury (T) short tail mutant was identified in a laboratory stock by Dobrovolskaïa-Zavadskaïa in 1927 and was subsequently cloned and found to be a member of the T-box family of transcription factors, required for the formation and differentiation of paraxial mesoderm2. Spontaneous mutations causing vertebral defects, including undulated (Pax1 un) and pudgy (Dll3 pu), have also been cloned and found to encode genes involved in somite patterning3,4. More recently, advances in genetic technologies have greatly expanded the number of mouse mutations with somite defects. These approaches include use of homologous recombination in embryonic stem (ES) cell lines to generate “knock-out” and “knock-in” mice, transgenic insertion of dominant-negative alleles and chemical mutagenesis by agents such as N-ethyl-N-nitrosourea (ENU). Mouse mutant phenotypes and signaling pathways have been studied and characterized through analysis of double mutants. These genetic studies in the mouse have yielded a tremendous amount of information about the process of mammalian somitogenesis.

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Authors and Affiliations

  1. School of Life Sciences, Arizona State University, PO Box 874501, Tempe, AZ, 85287-4501, USA

    Kenro Kusumi & William Sewell

  2. Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA

    Megan L. O’Brien

Authors
  1. Kenro Kusumi
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  2. William Sewell
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  3. Megan L. O’Brien
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Editors and Affiliations

  1. University of Dundee, Dundee, Scotland

    Miguel Maroto PhD

  2. University of Exeter, Devon, England

    Neil V. Whittock PhD

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© 2008 Landes Bioscience and Springer Science+Business Media, LLC

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Kusumi, K., Sewell, W., O’Brien, M.L. (2008). Mouse Mutations Disrupting Somitogenesis and Vertebral Patterning. In: Maroto, M., Whittock, N.V. (eds) Somitogenesis. Advances in Experimental Medicine and Biology, vol 638. Springer, New York, NY. https://doi.org/10.1007/978-0-387-09606-3_8

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