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Updated: Feb 25, 2026

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Genotyping Protocol for the Alpha-1 Antitrypsin (PiZ) Mouse Model.

Alisha M Gruntman1

  • 1Horae Gene Therapy Center, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA, 01605, USA. Alisha.Gruntman@umassmed.edu.

Methods in Molecular Biology (Clifton, N.J.)
|July 29, 2017
PubMed
Summary

This study details DNA extraction and genotyping methods for alpha-1 antitrypsin (AAT) transgenic mice carrying the common PiZ mutation. These techniques are crucial for studying AAT deficiency in a relevant animal model.

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Alpha-1 Antitrypsin Deficiency.

Methods in molecular biology (Clifton, N.J.)·2023

Area of Science:

  • Biochemistry
  • Genetics
  • Animal Models

Background:

  • Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder often caused by the common PiZ mutant variant (E342K).
  • Transgenic mouse models expressing the human PiZ AAT gene are vital for investigating AAT deficiency pathogenesis and potential therapies.

Purpose of the Study:

  • To provide a standardized protocol for DNA extraction from AAT transgenic (PiZ) mice.
  • To outline a reliable method for genotyping these specific transgenic mice.

Main Methods:

  • DNA extraction from mouse tissues.
  • Polymerase chain reaction (PCR) based genotyping to identify the presence of the mutant human PiZ AAT gene.

Main Results:

  • Successful isolation of high-quality DNA from AAT transgenic mice.
Keywords:
Alpha-1 antitrypsinDNA extractionGenotypingMurinePCRPiZ

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  • Accurate identification and differentiation of transgenic (PiZ) and wild-type mice through genotyping.

    • Conclusions:

    • The described protocol enables efficient DNA extraction and precise genotyping of AAT (PiZ) transgenic mice.
    • This methodology supports research into alpha-1 antitrypsin deficiency using established animal models.