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Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects
J L Crosby1, D S Varnum, L L Washburn
1Jackson Laboratory, Bar Harbor, MA 04609.
Mechanisms of Development
|May 1, 1992
Summary
The Disorganization (Ds) mutation in mice causes widespread developmental defects. Researchers found Ds is a dominant, gain-of-function mutation, meaning one copy is sufficient to cause effects.
Area of Science:
- Developmental biology
- Genetics
- Teratology
Background:
- The Disorganization (Ds) mutation in mice exhibits extreme pleiotropism, causing diverse congenital defects.
- Unlike other mutations, Ds displays random occurrence and developmental independence of multiple anomalies, making it unique.
Purpose of the Study:
- To investigate the genetic effects of gene dosage for the Disorganization (Ds) mutation.
- To determine if Ds is a gain-of-function mutation by examining trisomic fetuses.
Main Methods:
- Examined viability and phenotype of Ds homozygotes and +/+/Ds trisomic fetuses.
- Tested homozygote occurrence via intercrossing Ds/+ heterozygotes and genetic marker analysis.
- Derived trisomic fetuses by crossing Ds/Ds homozygotes with specific hybrid mice.
Main Results:
- Ds homozygotes occurred at expected frequencies and were not more severely affected than heterozygotes.
- Trisomic fetuses exhibited developmental defects characteristic of Ds mice.
- These findings confirm Ds is a completely dominant, gain-of-function mutation.
Conclusions:
- The Disorganization (Ds) mutation serves as a crucial model for studying genetic control of development and sporadic congenital defects.
- Ds is a dominant, gain-of-function mutation, offering insights into developmental anomalies.