Related Experiment Video
Updated: Jul 9, 2026
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial
Petra Muschke1, Uwe Kölsch, Sibylle Jakubiczka
1Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany.
Abstract:
We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial lipodystrophy, insulin-resistant diabetes, acanthosis nigricans, liver steatosis, muscle weakness, and contractures. This phenotype has features of both types 1 and 2 familial partial lipodystrophy. The sister and father of the proband had the same mutation. The sister was more mildly affected and the father was apparently unaffected, demonstrating variable expressivity and reduced penetrance for this mutation.
Related Concept Videos
02:41Lethal Alleles
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...
01:33Pleiotropy
01:43Sex-linked Disorders
01:43Incomplete Dominance
01:22Lysosomal Hydrolases
01:11Genetic Lingo