Related Experiment Video
Updated: Jul 4, 2026
Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
Published on: August 14, 2018
A novel SNaPshot assay to detect the mdx mutation
Sarah A Budowle1, Suzanne Gonzalez, Bruce Budowle
1Department of Human Nutrition, Food and Exercise, Virginia Polytechnic Institute and State University, Blacksburg, Virginia 24061, USA. sbudowle@vt.edu
Abstract:
The mdx mouse is an animal model for Duchenne muscular dystrophy (DMD). In order to evaluate possible treatments and to carry out genetic studies, it is essential to distinguish between mice that carry the dystrophic (mutant) or wild-type (wt) allele(s). The current amplification-resistant mutation system (ARMS) assay is labor intensive and yields false negatives, which reduces its efficiency as a screening tool. An alternate assay based on single-nucleotide polymorphism (SNP) primer extension technology (i.e., SNaPshot) is described. The SNaPshot assay has been optimized to identify both wild-type and mutant alleles, providing a robust, potentially automatable assay for high-throughput analysis.
