Article
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1.
Nature genetics - 1 Apr 2001
Costa R M, Yang T, Huynh D P, Pulst S M, Viskochil D H, Silva A J, Brannan C I
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a commonly inherited autosomal dominant disorder. Previous studies indicated that mice homozygous for a null mutation in Nf1 exhibit mid-gestation lethality, whereas heterozygous mice have an increased predisposition to tumors and learning impairments. Here we show that mice lacking the alternatively spliced exon 23a, which modifies the GTPase-activating protein (GAP) domain of...
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