biostudies-literatureCacheiro PBundesministerium für Bildung und ForschungEuropean Bioinformatics InstituteEuropean Molecular Biology LaboratoryNHGRI NIH HHSNational Institutes of HealthDeutsches Zentrum für DiabetesforschungHelmholtz Zentrum MünchenNIH HHSdmm049770https://www.ebi.ac.uk/biostudies/studies/S-EPMC10073007biostudies-literatureUnknown16(5)Mouse models are relevant to studying the functionality of genes involved in human diseases; however, translation of phenotypes can be challenging. Here, we investigated genes related to monogenic forms of cardiovascular disease based on the Genomics England PanelApp and aligned them to International Mouse Phenotyping Consortium (IMPC) data. We found 153 genes associated with cardiomyopathy, cardiac arrhythmias or congenital heart disease in humans, of which 151 have one-to-one mouse orthologues. For 37.7% (57/151), viability and heart data captured by electrocardiography, transthoracic echocardiography, morphology and pathology from embryos and young adult mice are available. In knockout mice, 75.4% (43/57) of these genes showed non-viable phenotypes, whereas records of prenatal, neonatalDisease models & mechanismsKnockout mice are an important tool for human monogenic heart disease studies.PMC100730075-UM1-HG00637001KX1012UM1 HG006370Smedley Dde Angelis MHFuchs HMashhadi HHCacheiro PSpielmann NGailus-Durner VfalseKnockout mice are an important tool for human monogenic heart disease studies.Mouse models are relevant to studying the functionality of genes involved in human diseases; however, translation of phenotypes can be challenging. Here, we investigated genes related to monogenic forms of cardiovascular disease based on the Genomics England PanelApp and aligned them to International Mouse Phenotyping Consortium (IMPC) data. We found 153 genes associated with cardiomyopathy, cardiac arrhythmias or congenital heart disease in humans, of which 151 have one-to-one mouse orthologues. For 37.7% (57/151), viability and heart data captured by electrocardiography, transthoracic echocardiography, morphology and pathology from embryos and young adult mice are available. In knockout mice, 75.4% (43/57) of these genes showed non-viable phenotypes, whereas records of prenatal, neonatal2023-01-01T00:00:00Z2023 May2026-04-30T12:53:18.473Z2024-11-21T02:01:01.571ZS-EPMC100730073682546910.1242/dmm.049770