Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2 Journal Article
| Authors: | Giovannini, M.; Robanus-Maandag, E.; Van Der Valk, M.; Niwa-Kawakita, M.; Abramowski, V.; Goutebroze, L.; Woodruff, J. M.; Berns, A.; Thomas, G. |
| Article Title: | Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2 |
| Abstract: | Hemizygosity for the NF2 gene in humans causes a syndromic susceptibility to schwannoma development. However, Nf2 hemizygous mice do not develop schwannomas but mainly osteosarcomas. In the tumors of both species, the second Nf2 allele is inactivated. We report that conditional homozygous Nf2 knockout mice with Cre-mediated excision of Nf2 exon 2 in Schwann cells showed characteristics of neurofibromatosis type 2. These included schwannomas, Schwann cell hyperplasia, cataract, and osseous metaplasia. Thus, the tumor suppressor function of Nf2, here revealed in murine Schwann cells, was concealed in hemizygous Nf2 mice because of insufficient rate of second allele inactivation in this cell compartment. The finding of this conserved function documents the relevance of the present approach to model the human disease. |
| Keywords: | gene mutation; gene deletion; mutation; exons; nonhuman; mouse; animals; mice; mice, knockout; animal tissue; neurofibromatosis; alleles; animalia; mice, transgenic; tumor suppressor gene; genetic susceptibility; murinae; base sequence; schwann cell; dna primers; knockout mouse; neurilemoma; neurilemmoma; promoter regions (genetics); neurofibromatosis 2; genes, neurofibromatosis 2; humans; priority journal; article; neurofibromatosis type 2; conditional knockout mice; cre/1oxp; schwann cell tumors; schwannomin |
| Journal Title: | Genes and Development |
| Volume: | 14 |
| Issue: | 13 |
| ISSN: | 0890-9369 |
| Publisher: | Cold Spring Harbor Laboratory Press |
| Date Published: | 2000-07-01 |
| Start Page: | 1617 |
| End Page: | 1630 |
| Language: | English |
| PUBMED: | 10887156 |
| PROVIDER: | scopus |
| PMCID: | PMC316733 |
| DOI: | 10.1101/gad.14.13.1617 |
| DOI/URL: | |
| Notes: | Export Date: 18 November 2015 -- Source: Scopus |
