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Epistasis

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

Epistasis Analysis

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Background and Environment Affect Phenotype

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...

In-vitro Mutagenesis

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Related Experiment Video

Updated: Mar 26, 2026

Forward Genetic Approach to Uncover Stress Resistance Genes in Mice — A High-throughput Screen in ES Cells

Forward Genetic Approach to Uncover Stress Resistance Genes in Mice — A High-throughput Screen in ES Cells

Published on: November 11, 2015

Weak Epistasis Generally Stabilizes Phenotypes in a Mouse Intercross.

Anna L Tyler¹, Leah Rae Donahue¹, Gary A Churchill¹

¹The Jackson Laboratory, Bar Harbor, Maine, United States of America.

|February 2, 2016

Summary

This summary is machine-generated.

Epistasis, or gene interactions, often has small effects on body composition in mice. These genetic interactions can stabilize traits toward the population mean, offering insights into complex biological relationships.

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Area of Science:

Genetics
Quantitative Genetics
Systems Biology

Background:

Epistasis, the interaction between genes, is often difficult to quantify and interpret in genetic studies.
Understanding epistasis is crucial for deciphering complex genetic architectures and biological consequences.

Purpose of the Study:

To investigate the prevalence and consequences of epistasis on body composition phenotypes.
To analyze the network of genetic interactions influencing body weight, body fat percentage, femoral density, and femoral circumference.

Main Methods:

Utilized a large F2 intercross of B6-lit/lit and C3.B6-lit/lit mice.
Employed Combined Analysis of Pleiotropy and Epistasis (CAPE) to simultaneously examine interactions among four body composition phenotypes.
Analyzed interactions involving IGF1 and sex.

Main Results:

Revealed an extensive, directed network of interacting genetic loci influencing body composition.
The majority of epistatic interactions had small effects compared to additive effects.
Identified phenotype-stabilizing interactions, where combinations of alleles from different parental strains produced intermediate phenotypes, and interactions from the same parental strain produced extreme phenotypes.
Detected interactions that stabilize phenotypes towards the population mean.

Conclusions:

Epistasis, while often weak and not accounting for a large proportion of heritable variance, plays a role in shaping complex traits.
Small-effect genetic interactions, particularly phenotype-stabilizing ones, can be valuable for generating hypotheses about functional relationships between genetic loci in well-powered studies.