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Updated: Aug 11, 2026
Chicken Recombinant Limbs Assay to Understand Morphogenesis, Patterning, and Early Steps in Cell Differentiation
Published on: January 12, 2022
Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse
Dominique Simon-Chazottes1, Sylvie Tutois, Michael Kuehn
1Unité de Génétique fonctionnelle de la Souris, Institut Pasteur, 75724 Paris Cedex 15, France.
Abstract:
Positional cloning of two recessive mutations of the mouse that cause polysyndactyly (dan and mdig-Chr 2) confirmed that the gene encoding MEGF7/LRP4, a member of the low-density lipoprotein receptor family, plays an essential role in the process of digit differentiation. Pathologies observed in the mutant mice provide insight into understanding the function(s) of LRP4 as a negative regulator of the Wnt-beta-catenin signaling pathway and may help identify the genetic basis for common human disorders with similar phenotypes.
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