Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse ☆

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–β-catenin signaling pathway and may help identify the genetic basis for common human disorders with similar phenotypes.