Phenotype Image Detail

Image

Caption

Ultrastructural abnormalities in microfibrils in Fbn1^tm3.2Lysa/Fbn1⁺ (Fbn1^WMdelta/+) and Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa (Fbn1^{WMdelta/WMdelta}) mouse skin and skin from a human with Weill-Marchesani syndrome (WMS). (a,b) Immunogold labeling of 9 month old wild-type (Fbn1^+/+) and mutant skin. Wild-type microfibrils decorated with fibrillin-1 antibodies showed periodic gold labeling along the lengths of individual microfibrils in the absence of elastin (Fbn1^+/+, a) and on the periphery of amorphous, darkly stained elastin cores (Fbn1^+/+, b). In constrast, fibrillin microfibrils in mutant skin showed reduced immunogold periodicity along microfibrils and larger and denser accumulations of microfibril aggregates (heterozygous and homozygous mutants, a); elastic fibers appeared to be moth-eaten and also showed reduced fibrillin-1 periodic labeling (b). Scale bar = 300 nm for all panels in a,b. (c) Extreme ultrastructural appearance of abnormal microfibril aggregates in both human Weill-Marchesani syndrome (WMS) and mouse mutant skin. Large dense aggregates of microfibrils were easily identified at low magnification in the skin of an 18 year old individual with WMS (left panel, arrows). Immunogold labeling demonstrated both normal periodic microfibrils (black arrowheads) and irregularly labeled microfibrils (white arrowheads) (middle panel). Large dense aggregates of microfibrils were also found in older mutant mouse skin. One such aggregate is shown in skin from a 17 month old homozygous mutant mouse. Scale bars = 500 nm.

Copyright

This image is from Sengle G, PLoS Genet 2012 Jan;8(1):e1002425, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:181493

Associated Alleles

Symbol	Name
Fbn1^tm3.2Lysa	fibrillin 1; targeted mutation 3.2, Lynn Y Sakai

Associated Genotypes

Allelic Composition	Genetic Background
Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa	Not Specified
Fbn1^tm3.2Lysa/Fbn1^+	Not Specified