ZFIN Image: Koopman et al., 2021, Fig. 2

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Figure Caption

Fig. 2 The arrhythmia phenotype in grime is caused by mutation of the tmem161b gene. (A) Positional cloning of grime by whole-genome sequencing mapping shows homozygosity on chromosome 5, and bioinformatic prediction identified a truncating mutation in transmembrane protein 161b, within the linked region (pink arrow). (B) Protein schematic of wild-type Tmem161b (above) and mutant alleles (below). The location of the grime/uq4ks mutation (C466*) and the CRISPR-Cas9-generated uq5ks allele (C466Ifs18*) is indicated. (C) Sequencing reads from wild-type, heterozygous, and homozygous tmem161b^uq4ks animals. (D) Experimental setup of complementation assay using a grime/uq4ks carrier and CRISPR-Cas9-generated uq5ks allele. (E) Quantification of progeny from complementation assays show that tmem161b heterozygosity fails to complement grime. Compound heterozygotes (uq4ks/uq5ks) have a reduced heart rate compared with siblings at 2 dpf, confirming that mutation of tmem161b is causative of the cardiac arrhythmia phenotype. n = 37 siblings, 10 compound heterozygotes; ****P < 0.0001.

Figure Data

Phenotype details

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Proc. Natl. Acad. Sci. USA