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Related Experiment Videos

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.

Erika A Bosman1, Andrew C Penn, John C Ambrose

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

Human Molecular Genetics
|October 7, 2005
PubMed
Summary

Mutations in the Chd7 gene cause inner ear defects and head-bobbing in mice, mimicking CHARGE syndrome features. This suggests Chd7

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Area of Science:

  • Genetics
  • Developmental Biology
  • Neuroscience

Background:

  • ENU mutagenesis in mice identified mutations on chromosome 4 causing head-bobbing and circling.
  • These behaviors are linked to truncations of the lateral semicircular canal in the inner ear.

Purpose of the Study:

  • To identify the specific gene responsible for the observed head-bobbing and circling phenotypes in mouse mutants.
  • To investigate the role of the identified gene in developmental defects and its relevance to human diseases like CHARGE syndrome.

Main Methods:

  • Genetic analysis of nine independent mouse mutant alleles.
  • Identification of mutations through sequencing of the candidate gene.
  • Expression analysis of the gene during mouse embryonic development.

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  • Phenotypic characterization of heterozygous mutant mice.

    • Main Results:

    • Nine of the mutant alleles were found to harbor mutations in the Chd7 gene (six nonsense, three splice site).
    • Chd7 exhibits widespread expression in developing mouse organs, including the eye, olfactory epithelium, inner ear, and vascular system.
    • Heterozygous Chd7 mutant mice displayed reduced penetrance of defects mimicking CHARGE syndrome, such as cleft palate, choanal atresia, and heart defects.

    Conclusions:

    • The Chd7 gene is implicated in the head-bobbing and circling phenotypes in mice, and its heterozygous mutations can cause a spectrum of developmental defects.
    • These findings highlight the conserved role of Chd7 in mammalian development and provide a mouse model for studying CHARGE syndrome.
    • The high frequency of mutations may be attributed to the large size of the Chd7 gene and the viability of heterozygous carriers with detectable phenotypes.