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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...

Complementation Tests

Complementation Tests

A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...

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...

Pleiotropy

Pleiotropy

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,...

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”.

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 10, 2026

The Lambda Select cII Mutation Detection System

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

LAMB2 mutation with different phenotypes in China .

Hongwen Zhang, Jieyuan Cui, Fang Wang

Clinical Nephrology

|December 8, 2016

Summary

Mutations in the LAMB2 gene can cause Pierson syndrome or isolated nephrotic syndrome. Genetic testing for LAMB2 is crucial for diagnosing steroid-resistant nephrotic syndrome in children, with or without eye issues.

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Last Updated: Mar 10, 2026

The Lambda Select cII Mutation Detection System

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Published on: April 26, 2018

In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Published on: August 24, 2013

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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Published on: August 15, 2019

Area of Science:

Genetics
Pediatric Nephrology
Ophthalmology

Background:

Mutations in the LAMB2 gene are primarily linked to Pierson syndrome, a condition featuring congenital nephrotic syndrome and ocular abnormalities like microcoria.
The phenotypic spectrum of LAMB2-associated disorders extends beyond Pierson syndrome to include isolated congenital or infantile nephrotic syndrome.

Observation:

This study investigated the phenotypes associated with LAMB2 mutations in three Chinese children diagnosed with steroid-resistant nephrotic syndrome.
Two of the three cases presented with ocular abnormalities, while one case showed isolated nephrotic syndrome.

Findings:

LAMB2 mutations were identified in all three cases.
Two patients were diagnosed with Pierson syndrome, and one patient had isolated infantile steroid-resistant nephrotic syndrome.
The findings highlight the variable clinical presentations of LAMB2 mutations.

Implications:

LAMB2 mutational analysis is recommended for all patients with steroid-resistant nephrotic syndrome, regardless of the presence of ocular symptoms.
Understanding the broader phenotypic spectrum aids in accurate diagnosis and management of LAMB2-related kidney and eye disorders.