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POPDC1S191F zebrafish mutant

This fish line has been produced by gene editing and exhibits reduced cAMP binding associated with severe consequences. The fish mutant displays cardiac arrhythmia, muscular dystrophy and myofiber rupture and models a mutation found in patients with limb-girdle muscular dystrophy and AV-block.


The Popeye domain containing (Popdc) genes (Popdc1, Popdc2 and Popdc3) encode a family of transmembrane proteins with an evolutionary conserved Popeye domain, which acts as a high affinity cAMP binding domain [1,2]. These genes are abundantly expressed in cardiac myocytes and striated muscle tissue. It has been demonstrated that Popdc1 and Popdc2 in mutant mice [3] and popdc2 in zebrafish are important for striated muscle differentiation and function [4]. In addition these genes are particularly required in the cardiac conduction system.


1. Andrée B, Hillemann T, Kessler-Icekson G, Schmitt-John T, Jockusch H, Arnold HH, Brand T. Isolation and characterization of the novel popeye gene family expressed in skeletal muscle and heart. Dev Biol. Jul 15;223(2):371-82. http://www.ncbi.nlm.nih.gov/pubmed/22290329

2. Simrick S, Schindler RF, Poon KL, Brand T. Popeye domain-containing proteins and stress-mediated modulation of cardiac pacemaking. Trends In Cardiovasc Med. 2013 Oct;23(7):257-63. http://www.ncbi.nlm.nih.gov/pubmed/23562093

3. Froese A, Breher SS, Waldeyer C, Schindler RF, Nikolaev VO, Rinné S, Wischmeyer E, Schlueter J, Becher J, Simrick S, Vauti F, Kuhtz J, Meister P, Kreissl S, Torlopp A, Liebig SK, Laakmann S, Müller TD, Neumann J, Stieber J, Ludwig A, Maier SK, Decher N, Arnold HH, Kirchhof P, Fabritz L, Brand T. Popeye domain containing proteins are essential for stress-mediated modulation of cardiac,pacemaking in mice. J Clin Invest. 2012 Mar;122(3):1119-30. http://www.ncbi.nlm.nih.gov/pubmed/22354168

4. Kirchmaier BC1, Poon KL, Schwerte T, Huisken J, Winkler C, Jungblut B, Stainier DY, Brand T The Popeye domain containing 2 (popdc2) gene in zebrafish is required for heart and skeletal muscle development. Dev Biol. 2012 Mar 15;363(2):438-50. http://www.ncbi.nlm.nih.gov/pubmed/22290329

Internal case number: 7585

POPDC1S191F zebrafish mutant

Zebrafish mutant for cardiac arrhythmia

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