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Article

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.

Human molecular genetics - 15 Nov 2005

Bosman Erika A, Penn Andrew C, Ambrose John C, Kettleborough Ross, Stemple Derek L, Steel Karen P

Abstract excerpt

Mouse ENU mutagenesis programmes have yielded a series of independent mutations on proximal chromosome 4 leading to dominant head-bobbing and circling behaviour due to truncations of the lateral semicircular canal of the inner ear. Here, we report the identification of mutations in the Chd7 gene in nine of these mutant alleles including six nonsense and three splice site mutations. The human CHD7 gene is known to...

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Source

Identifiers

PMID: 16207732
DOI: 10.1093/hmg/ddi375

Genes

CHD7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.PMID 16207732Read ↗

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Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.Semantic proximity Read ↗

Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.Semantic proximity Read ↗

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.Semantic proximity Read ↗

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