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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...

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.

Pedigree Analysis

Pedigree Analysis

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Law of Segregation

Law of Segregation

When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

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Related Experiment Video

Updated: Jul 5, 2025

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Published on: September 1, 2017

Lethal phenotypes in Mendelian disorders.

Pilar Cacheiro¹, Samantha Lawson², Ignatia B Van den Veyver^3,4

¹William Harvey Research Institute, Queen Mary University of London, London, UK.

Medrxiv : the Preprint Server for Health Sciences

|January 23, 2024

Summary

This summary is machine-generated.

This study categorizes human essential genes based on lethality data from OMIM, creating a new resource to aid in diagnosing early lethal conditions and understanding gene essentiality.

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Last Updated: Jul 5, 2025

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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Published on: August 24, 2013

Area of Science:

Genetics and Genomics
Human Genetics
Developmental Biology

Background:

Essential genes are critical for cell proliferation and organism survival, but their essentiality exists on a spectrum.
Current resources assess gene essentiality through proliferation, viability, and population variation data.
Clinical data, particularly lethality, offers a new avenue for characterizing gene essentiality.

Approach:

Queried the Online Mendelian Inheritance in Man (OMIM) database for lethality-related terms.
Classified Mendelian genes into categories based on the earliest recorded age of death for associated disorders.
Developed the Lethal Phenotypes Portal to showcase this curated catalogue and explore gene essentiality relationships.

Key Points:

The Lethal Phenotypes Portal categorizes human essential genes by lethality, from prenatal to no premature death.
Analysis reveals distinct inheritance patterns, affected physiological systems, and disease classes within lethality categories.
Phenotypic similarity and gene family information can facilitate novel disease gene discovery.

Conclusions:

The Lethal Phenotypes Portal provides a valuable resource for diagnosing early lethal human conditions.
Understanding gene essentiality through lethality data aids researchers in investigating critical developmental genes.
Comparing human and mouse lethal phenotypes offers insights into evolutionary and molecular differences.