First Author | Simon-Chazottes D | Year | 2006 |
Journal | Genomics | Volume | 87 |
Issue | 5 | Pages | 673-7 |
PubMed ID | 16517118 | Mgi Jnum | J:108168 |
Mgi Id | MGI:3623169 | Doi | 10.1016/j.ygeno.2006.01.007 |
Citation | Simon-Chazottes D, et al. (2006) Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics 87(5):673-7 |
abstractText | 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. |