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.
Publication types
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Comparative Study
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Research Support, N.I.H., Extramural
MeSH terms
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Animals
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Animals, Genetically Modified
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Base Sequence
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DNA Mutational Analysis
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Female
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Forelimb / abnormalities*
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Forelimb / diagnostic imaging
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LDL-Receptor Related Proteins
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Male
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Mice
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Molecular Sequence Data
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Mutagenesis, Insertional
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Mutation
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Open Reading Frames
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Radiography
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Receptors, LDL / genetics*
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Reverse Transcriptase Polymerase Chain Reaction / methods
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Sequence Analysis, DNA
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Syndactyly / diagnosis
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Syndactyly / genetics
Substances
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LDL-Receptor Related Proteins
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Lrp4 protein, mouse
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Receptors, LDL
Associated data
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GENBANK/AF247636
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GENBANK/AF247637