The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2
Open accessAbstract
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.
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Metadata
- Authors
- Giovannini, M., Robanus-Maandag, E., van der Valk, M., Niwa-Kawakita, M., Abramowski, V., Goutebroze, L., Woodruff, J. M., Berns, A., & Thomas, G.
- Venue
- Genes & Development
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2000-07-01
- Volume
- 14
- Issue
- 13
- Pages
- 1617-1630
- ISSN
- 0890-9369 (ISSN-L)
- 1549-5477
- OpenAlex
- W2150706412
- Cited by
- 369
- References
- 30
- Type
- posted content
- Language
- en
- Open access
- diamond
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- CoChat. (2026). Citation check: Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. https://app.cochat.ai/papers/10.1101/gad.14.13.1617
- The paper
- Giovannini, M., Robanus-Maandag, E., van der Valk, M., Niwa-Kawakita, M., Abramowski, V., Goutebroze, L., Woodruff, J. M., Berns, A., & Thomas, G. (2000). Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes & Development. https://doi.org/10.1101/gad.14.13.1617
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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