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A transgene insertional mutation at an imprinted locus in the mouse genome
1Wistar Institute of Anatomy and Biology, Philadelphia, PA 19104.
Development (Cambridge, England). Supplement
|January 1, 1990
Summary
Genetic imprinting in mice shows parental origin influences gene expression. A new transgenic mouse model reveals how this genomic imprinting affects both transgene and endogenous gene activity.
Area of Science:
- Genetics
- Epigenetics
- Mammalian Development
Background:
- Genetic imprinting causes functional differences between oocyte and spermatocyte genomes in mice.
- Molecular mechanisms of imprinting are studied via methylation phenotypes and hemizygous transgene expression.
Purpose of the Study:
- To investigate the molecular mechanisms underlying genetic imprinting.
- To characterize a novel transgenic mouse lineage exhibiting parent-of-origin-dependent gene expression.
Main Methods:
- Utilized genetic and pronuclear transfer experiments to study imprinting.
- Developed a transgenic mouse model with a mutation at the insertion site.
- Analyzed transgene and endogenous gene expression patterns based on parental origin.
Main Results:
- Established a transgenic mouse lineage where gene expression is determined by the parent of origin.
- Observed variable expressivity and incomplete penetrance of the mutation.
- Identified a modified dominant inheritance pattern.
Conclusions:
- The study provides a new model for investigating genomic imprinting.
- Parental origin significantly influences gene expression at the insertion site.
- The observed mutation characteristics offer insights into imprinting mechanisms.