Article
Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse.
Human molecular genetics - 15 Apr 2011
Brouns Madeleine R, De Castro Sandra C P, Terwindt-Rouwenhorst Els A, Massa Valentina, Hekking Johan W, Hirst Caroline S, Savery Dawn, Munts Chantal, Partridge Darren, Lamers Wout, Köhler Eleonore, van Straaten Henny W, Copp Andrew J, Greene Nicholas D E
Abstract excerpt
Cranial neural tube defects (NTDs) occur in mice carrying mutant alleles of many different genes, whereas isolated spinal NTDs (spina bifida) occur in fewer models, despite being common human birth defects. Spina bifida occurs at high frequency in the Axial defects (Axd) mouse mutant but the causative gene is not known. In the current study, the Axd mutation was mapped by linkage analysis. Within the critical...
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