Anatomy and Embryology

, Volume 187, Issue 2, pp 153–160

The Splotch mutation interferes with muscle development in the limbs


  • T. Franz
    • Anatomisches Institut, Abteilung für Neuroanatomie, Universitäts-Krankenhaus Eppendorf
  • R. Kothary
    • Institut du Cancer de Montreal
  • M. A. H. Surani
    • Department of Molecular EmbryologyAFRC Institute of Animal Physiology and Genetics Research, Cambridge Research Station
  • Z. Halata
    • Anatomisches Institut, Abteilung für funktionelle Anatomie, Universitäts-Krankenhaus Eppendorf
  • M. Grim
    • Institute of Anatomy, Charles University

DOI: 10.1007/BF00171747

Cite this article as:
Franz, T., Kothary, R., Surani, M.A.H. et al. Anat Embryol (1993) 187: 153. doi:10.1007/BF00171747


Homozygosity for the Splotch mutation causes neural tube and neural crest defects in mice. It has been demonstrated that Splotch mutant mice carry mutations in the homeodomain of the Pax-3 gene. Pax-3 is expressed in the neural tube, some neural crest derivatives, the mesenchyme of the limb bud and the somites. We have examined the development of the somite-derived skeletal muscles in homozygotes carrying the Splotch (Sp1H) mutation. Our results suggest that the Splotch mutation affects the development of skeletal muscles in a region-specific way: 1. The expression of the CMZ transgene in homozygotes reveals a disorganisation of the dermomyotome in whole stained embryos. 2. The axial musculature is reduced in size along a rostro-caudal gradient. 3. The muscle anlagen in the limbs develop much more slowly. Muscles of the head and the ventral body wall are normally developed in the mutant on day 13.5 of gestation. Recently, it has been shown that the myogenic precursors of the limbs are derived from the lateral half of the somite. The specific disturbance of muscle development in the limbs of Splotch mutants thus suggests a role for Pax-3 in the organisation of the somite, the production of trophic factors in the limb mesenchyme or an alteration of myogenic and mesenchymal cells.

Key words

Splotch mutationPax-3 geneSkeletal muscleMouse

Copyright information

© Springer-Verlag 1993