Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome | Zendy

Philip J. Gage | Zendy; Elizabeth A. Hurd | Zendy; Donna M. Martin | Zendy

Open Access

Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome

Author(s) -

Philip J. Gage,

Elizabeth A. Hurd,

Donna M. Martin

Publication year - 2015

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.15-18069

Subject(s) - ectoderm , charge syndrome , eye development , biology , coloboma , optic cup (embryology) , haploinsufficiency , neural development , anatomy , microbiology and biotechnology , genetics , embryogenesis , embryo , gene , phenotype

CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary tract abnormalities, and Ear abnormalities and deafness) is the second-leading cause of deaf-blindness after Usher syndrome. Heterozygous mutations in CHD7 cause CHARGE syndrome in 70% to 90% of patients. We tested the hypothesis that tissue-specific mutant mice provide models for molecularly dissecting CHD7 functions during eye development.

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