Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1

摘要: Neurofibromatosis type 1 (NF1) is a commonly inherited autosomal dominant disorder. Previous studies indicated that mice homozygous for null mutation in Nf1 exhibit mid-gestation lethality, whereas heterozygous have an increased predisposition to tumors and learning impairments. Here we show lacking the alternatively spliced exon 23a, which modifies GTPase-activating protein (GAP) domain of Nf1, are viable physically normal, do not tumor predisposition, but specific Our findings implications development treatment disabilities associated with NF1 indicate GAP modulates memory.