Related Experiment Videos
Genetic interactions suggest that Danforth's short tail (Sd) is a gain-of-function mutation
1Max-Delbrück-Laboratorium in der Max Planck Gesellschaft, Köln, Germany.
Developmental Genetics
|August 26, 1998
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.
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:
- 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.