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Related Concept Videos

Epistasis01:39

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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Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

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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...
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Lethal Alleles02:41

Lethal Alleles

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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...
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Incomplete Dominance01:43

Incomplete Dominance

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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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Epistasis Analysis01:09

Epistasis Analysis

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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...
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Genetic Lingo01:11

Genetic Lingo

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Overview
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Related Experiment Video

Updated: Apr 21, 2026

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
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Piebald mutation on a C57BL/6J background.

Sanae Fukushima1, Kimie Niimi, Eiki Takahashi

  • 1Research Resources Center, RIKEN Brain Science Institute, Saitama 351-0198, Japan.

The Journal of Veterinary Medical Science
|October 21, 2014
PubMed
Summary

Genetic background influences the endothelin receptor type B (Ednrb) gene mutation phenotype. Modifier genes on the C57BL/6J strain background can prevent megacolon and mortality in piebald mice.

Area of Science:

  • Genetics
  • Developmental Biology
  • Microbiology

Background:

  • The piebald mutation in the endothelin receptor type B (Ednrb) gene causes white coat spotting.
  • The influence of genetic background on this mutation's phenotype was previously unclear.

Purpose of the Study:

  • To investigate how the genetic background affects the phenotype of piebald mutant mice.
  • To identify potential modifier genes influencing Ednrb-related traits.

Main Methods:

  • Generated a congenic strain (B6.PROD-s/s) by backcrossing PROD-s/s mice to C57BL/6J (B6) mice.
  • Compared phenotypes (coat spotting, mortality, megacolon) across different genetic backgrounds.
  • Analyzed Ednrb gene expression, rectal histology, and intestinal flora composition.

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Main Results:

  • B6.PROD-s/s mice exhibited white coat spotting but also a 7% mortality rate due to megacolon.
  • Other strains with piebald mutations on different backgrounds showed only pigmentation defects.
  • Megacolon cases displayed reduced Ednrb expression, rectal aganglionosis, and altered gut microbiota.
  • The B6 genetic background appears to possess modifier genes that mitigate aganglionosis.

Conclusions:

  • The genetic background critically influences enteric ganglion neuron development controlled by the Ednrb gene.
  • The C57BL/6J strain carries modifier genes that protect against Ednrb-related aganglionosis and megacolon.
  • Understanding these modifiers is crucial for studying piebaldism and related developmental disorders.