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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

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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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Related Experiment Video

Updated: Jun 12, 2026

Induction of Murine Intestinal Inflammation by Adoptive Transfer of Effector CD4+CD45RBhigh T Cells into Immunodeficient Mice

Induction of Murine Intestinal Inflammation by Adoptive Transfer of Effector CD4⁺CD45RB^high T Cells into Immunodeficient Mice

Published on: April 21, 2015

Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

Suk See De Ravin¹, Edward W Cowen, Kol A Zarember

¹Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA. sderavin@niaid.nih.gov

|May 22, 2010

Summary

A rare genetic disorder, Recombination activating gene-1 (Rag1) deficiency, caused severe facial destruction in an adolescent. This case expands understanding of Rag1 deficiency presentations and immune dysregulation.

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Area of Science:

Immunology
Genetics
Pediatrics

Background:

Destructive midline granulomatous disease (DMGD) of the head and neck typically results from autoimmune conditions, infections, or substance abuse.
Wegener granulomatosis, lymphomas, and infections are common causes of DMGD.
Myasthenia gravis is an autoimmune disorder affecting neuromuscular junctions.

Observation:

An adolescent with myasthenia gravis, post-thymectomy, developed extensive DMGD affecting facial structures, palate, nasal septum, airways, and epiglottis.
The patient presented with normal lymphocyte counts, immunoglobulin G levels, and T-cell receptor (TCR) repertoire.
Genetic analysis revealed compound heterozygous mutations in Recombination activating gene-1 (Rag1), including a novel deletion and a missense mutation.

Findings:

The patient's Rag1 mutations resulted in absent and reduced recombinase activity.
The thymus was dysplastic, lacking autoimmune regulator (AIRE) and Foxp3(+) regulatory T cells, despite normal T-cell numbers.
This Rag1-deficient phenotype demonstrated immune dysregulation with granulomatous hyperinflammation and autoimmunity.

Implications:

This case expands the spectrum of clinical presentations for Rag1 deficiency.
It highlights a distinct phenotype characterized by immune dysregulation, hyperinflammation, and autoimmunity in the context of relatively normal lymphocyte counts and TCR diversity.
Understanding this phenotype is crucial for diagnosing and managing similar rare immune disorders.