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Publication : Generation of transgenic mice producing a human transthyretin variant: a possible mouse model for familial amyloidotic polyneuropathy.

First Author  Sasaki H Year  1986
Journal  Biochem Biophys Res Commun Volume  139
Issue  2 Pages  794-9
PubMed ID  3021142 Mgi Jnum  J:159166
Mgi Id  MGI:4441473 Doi  10.1016/s0006-291x(86)80060-2
Citation  Sasaki H, et al. (1986) Generation of transgenic mice producing a human transthyretin variant: a possible mouse model for familial amyloidotic polyneuropathy. Biochem Biophys Res Commun 139(2):794-9
abstractText  Type I familial amyloidotic polyneuropathy (FAP) results from the systemic deposition of a plasma transthyretin (TTR) variant with a Val----Met change at position 30. In an attempt to establish a model of this disease, we generated transgenic mice producing the variant TTR. A DNA fragment containing the mouse metallothionein-I promoter fused to the structural gene coding for the human TTR variant was microinjected into fertilized mouse eggs. Among 72 mice that developed from these eggs, ten carried the fusion gene and three of these showed significant concentrations of the variant TTR in their serum. These mice may be useful in elucidating the pathogenesis of FAP and in establishing a therapy for this intractable disorder.
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