Article
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.
Genes & development - 1 May 1994
Brannan C I, Perkins A S, Vogel K S, Ratner N, Nordlund M L, Reid S W, Buchberg A M, Jenkins N A, Parada L F, Copeland N G
Abstract excerpt
The neurofibromatosis (NF1) gene shows significant homology to mammalian GAP and is an important regulator of the ras signal transduction pathway. To study the function of NF1 in normal development and to try and develop a mouse model of NF1 disease, we have used gene targeting in ES cells to generate mice carrying a null mutation at the mouse Nf1 locus. Although heterozygous mutant mice, aged up to 10 months,...
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