FIGURE

Figure 2

ID

ZDB-FIG-220131-507

Publication

Prendergast et al., 2022 - Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm

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Figure 2

Pedigrees of EMILIN1 (Panel A) and MIB1 (Panel B) families with thoracic aortic disease tested as part of routine clinical genetic testing at the Yale Aortic Institute. For testing EMILIN1 variants in the zebrafish model, missense variants identified in TAAFam02 and TAAFam03 were used (p.E170G and p.T904S, respectively). For testing MIB1 variants in the zebrafish model, nonsense variants identified in TAAFam05, TAAFam06, TAAFam07 were used (p.R906X seen both in TAAFam05 and TAAFam06 and p. G596X for TAAFam07). The index patients (labeled with an arrow) underwent exome sequencing, while other family members underwent single-site Sanger sequencing.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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