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Article

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

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Feb 2007

Hurd Elizabeth A, Capers Patrice L, Blauwkamp Marsha N, Adams Meredith E, Raphael Yehoash, Poucher Heather K, Martin Donna M

Abstract excerpt

CHD7 is a novel chromodomain gene mutated in 60%-80% of humans with CHARGE syndrome, a multiple congenital anomaly condition characterized by ocular coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, and characteristic ear abnormalities including deafness. Phenotypic features of CHARGE are highly variable and incompletely penetrant. To explore developmental roles...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17334657
DOI: 10.1007/s00335-006-0107-6

Genes

CHD7

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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.PMID 17334657Read ↗

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

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal developmentSemantic proximity Read ↗

CHD7 regulates otic lineage differentiation and deafness gene expression in human inner ear organoidsSemantic proximity Read ↗

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New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.Semantic proximity Read ↗

Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.Semantic proximity Read ↗

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