Abstract
The most common alpha-1 antitrypsin (AAT) mutant variant is a missense mutation (E342K), commonly referred to as PiZ. A transgenic mouse model exists that expresses the mutant human PiZ AAT gene. This protocol outlines the procedure used to extract DNA from and genotype AAT transgenic (PiZ) mice.
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References
Carlson JA, Rogers BB, Sifers RN, Finegold MJ, Clift SM, DeMayo FJ, Bullock DW, Woo SL (1989) Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice. J Clin Invest 83(4):1183–1190. doi:10.1172/jci113999
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Gruntman, A.M. (2017). Genotyping Protocol for the Alpha-1 Antitrypsin (PiZ) Mouse Model. In: Borel, F., Mueller, C. (eds) Alpha-1 Antitrypsin Deficiency . Methods in Molecular Biology, vol 1639. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7163-3_6
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DOI: https://doi.org/10.1007/978-1-4939-7163-3_6
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Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-7161-9
Online ISBN: 978-1-4939-7163-3
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