title: Mouse models of neurofibromatosis 1 and 2.
abstract: The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors whereas those affected with neurofibromatosis 2 (NF2) develop schwannomas and meningiomas. The development of traditional homozygous knockout mice has provided insights into the roles of the NF1 and NF2 genes during development and in differentiation, but has been less instructive regarding the contribution of NF1 and NF2 dysfunction to the pathogenesis of specific benign and malignant tumors. Recent progress employing novel mouse targeting strategies has begun to illuminate the roles of the NF1 and NF2 gene products in the molecular pathogenesis of NF-associated tumors.
authors.affiliation: Department of Neurology, Washington University School of Medicine, Box 8111, 660 S. Euclid Avenue, St. Louis, MO 63110, USA. gutmannd@neuro.wustl.edu
authors.forename: David H
authors.initials: DH
authors.lastname: Gutmann
authors.forename: Marco
authors.initials: M
authors.lastname: Giovannini
mesh_terms: D000818:Animals; D001254:Astrocytoma / Q000209:etiology; D002678:Chimera; D005260:Female; D005544:Forecasting; D005786:Gene Expression Regulation; D018390:Gene Targeting / Q000379:methods; D016514:Genes, Neurofibromatosis 1; D016515:Genes, Neurofibromatosis 2; D005838:Genotype; D006801:Humans; D006965:Hyperplasia; D008297:Male; D008579:Meningioma / Q000209:etiology; D051379:Mice; D018345:Mice, Knockout; D023421:Models, Animal; D018317:Nerve Sheath Neoplasms / Q000209:etiology; D009419:Nerve Tissue Proteins / Q000502:physiology; D009442:Neurilemmoma / Q000209:etiology; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000235:genetics / Q000473:pathology; D025542:Neurofibromin 1 / Q000502:physiology; D025581:Neurofibromin 2 / Q000502:physiology; D020033:Protein Isoforms / Q000502:physiology; D012583:Schwann Cells / Q000473:pathology
chemical_list: D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1; D025581:Neurofibromin 2; D020033:Protein Isoforms