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Genetic interactions suggest that Danforth's short tail (Sd) is a gain-of-function mutation

J Zachgo1, R Korn, A Gossler

  • 1Max-Delbrück-Laboratorium in der Max Planck Gesellschaft, Köln, Germany.

Developmental Genetics
|August 26, 1998
PubMed
Summary

Danforth's short tail (Sd) mutation in mice causes vertebral defects. Genetic interactions with Etl4lacZ suggest Sd is a gain-of-function mutation, impacting notochord development and vertebral column formation.

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Area of Science:

  • Developmental Genetics
  • Mouse Genetics
  • Molecular Biology

Background:

  • Danforth's short tail (Sd) is a semidominant mouse mutation affecting vertebral development.
  • The molecular basis of Sd and its inheritance pattern (haploinsufficiency vs. gain-of-function) remained unknown.

Purpose of the Study:

  • To genetically investigate the nature of the Danforth's short tail (Sd) mutation.
  • To determine if Sd is a loss-of-function or gain-of-function mutation using genetic interactions.

Main Methods:

  • Analysis of genetic interactions between the Sd mutation and an enhancer trap insertion (Etl4lacZ).
  • Examination of phenotypic modifications in double heterozygotes with varying chromosomal configurations (cis and trans).

Main Results:

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  • The Etl4lacZ insertion modifies the Sd phenotype in a configuration-dependent manner.
  • In the trans configuration, Etl4lacZ enhances the Sd phenotype, worsening vertebral defects.
  • In the cis configuration, Etl4lacZ attenuates the Sd phenotype, restoring vertebral structures.

Conclusions:

  • Genetic interactions provide evidence that Sd is a gain-of-function mutation.
  • The configuration-dependent interaction suggests a direct interplay between Etl4lacZ and the Sd gene.
  • Etl4lacZ may represent a novel allele of the Sd gene.