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

Dominique Simon-Chazottes 1 Sylvie Tutois 2 Michael Kuehn 3 Martin Evans 4 Franck Bourgade 1 Sue Cook 5 Muriel Davisson 5 Jean-Louis Guénet 1, *
* Corresponding author
1 Génétique Fonctionnelle de la Souris
2 Biomove
3 FNLCR - Frederick National Laboratory for Cancer Research
4 Cardiff University
5 JAX - The Jackson Laboratory [Bar Harbor]
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.
Keywords : Mutation Limb development Mouse LDL receptors
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https://hal-pasteur.archives-ouvertes.fr/pasteur-03274121
Contributor : Franck Bourgade Connect in order to contact the contributor
Submitted on : Tuesday, June 29, 2021 - 6:02:42 PM
Last modification on : Tuesday, October 19, 2021 - 10:27:17 PM

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Dominique Simon-Chazottes, Sylvie Tutois, Michael Kuehn, Martin Evans, Franck Bourgade, et al.. Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics, 2006, 87 (5), pp.673-677. ⟨10.1016/j.ygeno.2006.01.007⟩. ⟨pasteur-03274121⟩

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