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Article

Knockout mice are an important tool for human monogenic heart disease studies.

Disease models & mechanisms - 1 May 2023

Cacheiro Pilar, Spielmann Nadine, Mashhadi Hamed Haseli, Fuchs Helmut, Gailus-Durner Valerie, Smedley Damian, de Angelis Martin Hrabĕ

Abstract excerpt

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...

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Identifiers

PMID: 36825469
DOI: 10.1242/dmm.049770
PMCID: PMC10073007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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