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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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Related Experiment Video

Updated: Apr 17, 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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ECEL1 mutation causes fetal arthrogryposis multiplex congenita.

N Dohrn1, V Q Le, A Petersen

  • 1Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.

American Journal of Medical Genetics. Part A
|February 25, 2015
PubMed
Summary

Arthrogryposis multiplex congenita (AMC) is a congenital joint fixation disorder. Whole exome sequencing identified a novel ECEL1 gene mutation, expanding the genetic causes of AMC and centronuclear myopathy.

Area of Science:

  • Genetics
  • Neuromuscular Disorders
  • Developmental Biology

Background:

  • Arthrogryposis multiplex congenita (AMC) presents as congenital fixation of multiple joints.
  • Recurrent cases in a consanguineous couple prompted investigation into genetic underpinnings.
Keywords:
ECEL1arthrogryposis multiplex congenitacentral nucleifetuswhole exome sequencing

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