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Publication : Widespread but cell type-specific expression of the mouse neurofibromatosis type 2 gene.

First Author  Claudio JO Year  1995
Journal  Neuroreport Volume  6
Issue  14 Pages  1942-6
PubMed ID  8547603 Mgi Jnum  J:31660
Mgi Id  MGI:79149 Doi  10.1097/00001756-199510020-00028
Citation  Claudio JO, et al. (1995) Widespread but cell type-specific expression of the mouse neurofibromatosis type 2 gene. Neuroreport 6(14):1942-6
abstractText  Neurofibromatosis type 2 (NF2) is an autosomal dominant disease in which loss of function mutations of the NF2 gene lead to the development of schwannomas, meningiomas and juvenile cataracts. We studied the mouse NF2 homologue (Nf2) to determine its precise pattern of mRNA and protein expression. In situ hybridization showed that Nf2 is expressed in neuronal cells as well as in epithelial and fibre cells of the lens. The Nf2 protein, schwannomin, is expressed as a single protein isoform of approximately 80 kDa in neuronal and non-neuronal tissues. In Purkinje cells of the cerebellum and motor neurones of the spinal cord, the protein is in the cytoplasm. In non-neuronal tissues immunostaining showed expression in cells of the tunica intima of blood vessels. We conclude that there is a widespread but cell type-specific expression of schwannomin.
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