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Correspondence: K. B. Avraham, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. Tel: 972 3 6407030. Fax: 972 3 6409360. E-mail: Karena@post.tau.ac.il
 

Summary: Correspondence: K. B. Avraham, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv
69978, Israel. Tel: 972 3 6407030. Fax: 972 3 6409360. E-mail: Karena@post.tau.ac.il
ORIGINAL ARTICLE
The inner ear phenotype of Volchok (Vlk): An ENU-induced mouse
model for CHARGE syndrome
DANIELLE R. LENZ1, AMIEL A. DROR1, GUY WEKSELMAN1, HELMUT FUCHS2,
MARTIN HRABÉ DE ANGELIS2 & KAREN B. AVRAHAM1
1Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine,Tel Aviv University,Tel Aviv, Israel,
2Institute of Experimental Genetics, Helmholtz Zentrum München Neuherberg, Germany
Abstract
Objective: The Volchok (Vlk) mouse originated as a part of a large-scale ENU program on a C3HeB/FeJ background.
The mice present a dominant pattern of inheritance reflected mainly by circling activity, which led us to search for the
causative mutation underlying the vestibular phenotype. Study design: Linkage analysis and subsequent sequencing were
used to narrow down the genomic region and uncover the mutation, respectively. Behavioral analysis and examination
of the inner ear phenotype was performed using the modified SHIRPA protocol, auditory brainstem response (ABR),
immunofluorescence, light microscopy, scanning electron microscopy (SEM), paint-fill and neurofilament staining tech-
niques. Results: A nonsense mutation was discovered in the Chd7 gene responsible for CHARGE syndrome in humans,
which leads to a decrease in Chd7 expression in the nuclei of the vestibular and cochlear cells and structural abnor-
malities in the inner ear. A mild hearing loss was found in the mutant mice. The malformations detected include a
truncated lateral semicircular canal and smaller lateral crista, a decrease in size or absence of the round window in the

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine