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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...

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.

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,...

Pedigree Analysis

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Mutations

Mutations

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: May 15, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Mutations in ECEL1 cause distal arthrogryposis type 5D.

Margaret J McMillin¹, Jennifer E Below, Kathryn M Shively

¹Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

American Journal of Human Genetics

|December 25, 2012

Summary

This summary is machine-generated.

Mutations in the ECEL1 gene cause distal arthrogryposis type 5D (DA5D), a rare congenital disorder. This finding identifies a new genetic pathway contributing to congenital contracture syndromes.

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Area of Science:

Genetics
Developmental Biology
Neurology

Background:

Distal arthrogryposis (DA) syndromes are common congenital disorders characterized by muscle contractures.
Approximately 50% of DA cases stem from mutations in genes encoding contractile proteins.
Distal arthrogryposis type 5D (DA5D) is a rare, autosomal-recessive form previously identified, featuring hand/foot contractures and ptosis.

Purpose of the Study:

To identify the genetic cause of Distal arthrogryposis type 5D (DA5D).
To investigate the role of ECEL1 in the pathogenesis of DA5D.
To elucidate novel developmental pathways involved in congenital contracture syndromes.

Main Methods:

Linkage analysis and whole-genome sequencing were performed on a multiplex consanguineous family.
Genetic analysis was extended to seven families affected by DA5D.
Phenotypic evaluation included assessment of congenital contractures and facial features.

Main Results:

Mutations in the endothelin-converting enzyme-like 1 (ECEL1) gene were identified as the cause of DA5D.
ECEL1 mutations were found in five out of seven studied DA5D families, accounting for approximately 70% of cases.
ECEL1 is a neuronal endopeptidase expressed in the nervous system.
Ecel1-deficient mice showed impaired motor neuron branching and neuromuscular junction formation.

Conclusions:

Mutations in ECEL1 represent a significant cause of DA5D.
ECEL1 mutations disrupt neuromuscular development, leading to congenital contractures.
This study reveals a second major developmental pathway implicated in congenital contracture syndromes.