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Cacheiro, P.* ; Spielmann, N. ; Mashhadi, H.H.* ; Fuchs, H. ; Gailus-Durner, V. ; Smedley, D.* ; Hrabě de Angelis, M.

Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease.

Dis. Model. Mech. 16:dmm049770 (2023)

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Mouse models are relevant to study the functionality of genes involved in human diseases, however, translation of phenotypes can be challenging. Herein, we investigated genes related to monogenic forms of cardiovascular disease based on the Genomics England PanelApp and aligned them to the International Mouse Phenotyping Consortium data. We found 153 genes associated to cardiomyopathy, cardiac arrhythmias or congenital heart disease in humans, 151 with a one2one mouse orthologs. For 37.7% (57/151) viability and heart data captured by electrocardiography, transthoracic echocardiography, morphology and pathology from embryos and young adult mice was available. In knockout mice, 75.4% (43/57) of these genes showed non-viable phenotypes, whereas records of prenatal, neonatal or infant death in humans were found for 35.1% (20/57). Multisystem phenotypes are common, with 58.8% (20/34) of heterozygous (homozygous lethal) and 78.6% (11/14) of homozygous (viable) mice showing cardiovascular, metabolic/homeostasis, musculoskeletal, hematopoietic, nervous system and/or growth abnormalities mimicking the clinical manifestations observed in patients. This IMPC data is critical beyond cardiac diagnostics given its multisystemic nature that allows detecting abnormalities across physiological systems, providing a valuable resource to understand pleiotropic effects.

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