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Updated: Mar 9, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
A new method of genotyping MDX4CV mice by PCR-RFLP analysis
Elisia D Tichy1, Foteini Mourkioti1,2
1Department of Orthopaedic Surgery, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Introduction:
The mdx4cv mouse is a common model to study Duchenne muscular dystrophy. The most used methodology to identify the genotype of these mice is Sanger DNA sequencing.
Methods:
Here, we provide a simple, cost-effective alternative approach to identify the wild-type, heterozygous, or homozygous/hemizygous genotypes of these mice, using commonly available laboratory equipment and reagents.
Results:
Our technique exploits a restriction fragment length polymorphism that is generated by the point mutation found in exon 53 of mdx4cv mice.
Conclusions:
This technique can benefit laboratories that require complex breeding strategies involving mdx4cv mice. Muscle Nerve 56: 522-524, 2017.

