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. 2022 Feb 17;1(2):157–173. doi: 10.1038/s44161-022-00018-8

Extended Data Fig. 1. Summary of data gathering and genotype and phenotype information.

Extended Data Fig. 1

a. Schematic overview of the IMPC data gathering. In total, 705 candidate genes with ≥ 1 significant parameter (q-value <0.05) in electrocardiography (ECG) or transthoracic echocardiography (TTE) derivates: ECG n = 424, TTE n = 243, TTE & ECG n = 38 target genes. b: Comprehensive representation of phenotype distribution across 705 genes. Genotype < >phenotype represented by chord graphs. Strength indicated by line thickness (thin lines - low phenotype count). Number of significant phenotypes (called ‘hits’) per gene (q-value <0.05). ECG - left, TTE – middle, both ECG and ECHO - right. Most genes with 1-2 hits, few with ≥ 3 hits. In gene knockouts with abnormal ECG, we observed an abnormal heart rate and inversely correlated RR interval duration in 29% (123/424) of mutant lines. A total of 24% of gene knockouts had QT alterations (102/424), 17% (72/424) in QRS, and 16% (68/424) in ST interval length. In the 243 knockouts with abnormal TTE data, we identified altered fractional shortening and ejection fraction associated with left ventricular dysfunction in 23% (56/243) of gene knockouts. Morphological differences in left ventricular interior diameter (LVID) or left ventricular posterior wall (LVPW) or anterior wall (LVAW) thickness observed in 20% (49/243) of the abnormal TTE knockouts. Half of the gene knockouts with abnormal cardiac phenotypes had a single abnormal phenotype; 49% (207/424) with ECG only and 57% (139/243) with TTE only compared to control animals.