Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse.
Genomics 2006 May; 87(5):673-7.
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.
Simon, Chazottes D.; Tutois, S; Kuehn, M; Evans, M; Bourgade, F; Cook, S; Davisson, M T.; and Guenet, J L., "Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse." (2006). Faculty Research 2000 - 2009. 1328.