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Genetic Lingo

Genetic Lingo

Epistasis

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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...

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.

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Background and Environment Affect Phenotype

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Related Experiment Video

Updated: Jun 11, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Mahogany/attractin: en route from phenotype to function.

T M Gunn¹, G S Barsh

¹Departments of Pediatrics and Genetics, and the HHMI, Stanford University School of Medicine, Stanford, CA 94305-5323, USA.

Trends in Cardiovascular Medicine

|January 11, 2001

Summary

The mahogany mutation in mice impacts melanocortin signaling, affecting energy balance and coat color. This mutation is linked to the attractin gene, a protein with potential roles beyond this signaling pathway.

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Last Updated: Jun 11, 2026

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Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish

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Published on: March 1, 2022

Area of Science:

Genetics
Molecular Biology
Neuroendocrinology

Background:

The mouse mahogany mutation is associated with disruptions in melanocortin signaling pathways.
These pathways are crucial for regulating critical physiological processes, including energy homeostasis and pigmentation.
The specific gene responsible for the mahogany phenotype was previously unidentified.

Purpose of the Study:

To identify the gene underlying the mouse mahogany mutation.
To characterize the function and expression of the identified gene.
To explore potential roles of this gene beyond melanocortin signaling.

Main Methods:

Positional cloning and genetic mapping to identify the mutated gene in mahogany mice.
Sequence analysis of the candidate gene to confirm mutations.
Expression analysis to determine tissue distribution and developmental patterns of the gene product.

Main Results:

The gene mutated in mahogany mice was identified as attractin.
Attractin encodes a large, broadly expressed transmembrane protein conserved across species.
The study provides evidence for attractin's role in melanocortin signaling and suggests additional functions.

Conclusions:

Cloning of the attractin gene provides a crucial tool for understanding its multifaceted roles.
Further research can now focus on the biochemical functions of attractin, particularly in energy homeostasis and other biological processes.
The findings open avenues for investigating attractin's involvement in various physiological and potentially pathological conditions.