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Article

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.

International journal of molecular sciences - 29 Sept 2022

Collins Stephan C, Vancollie Valerie E, Mikhaleva Anna, Wagner Christel, Balz Rebecca, Lelliott Christopher J, Yalcin Binnaz

Abstract excerpt

CHARGE syndrome is a rare congenital disorder frequently caused by mutations in the chromodomain helicase DNA-binding protein-7 CHD7. Here, we developed and systematically characterized two genetic mouse models with identical, heterozygous loss-of-function mutation of the Chd7 gene engineered on inbred and outbred genetic backgrounds. We found that both models showed consistent phenotypes with the core clinical...

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Identifiers

PMID: 36232804
DOI: 10.3390/ijms231911509
PMCID: PMC9569499

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Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.PMID 36232804Read ↗

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