CHD7

Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an is_associated_with::enzyme that in humans is encoded by the CHD7 is_associated_with::gene.

CHD7 is an ATP-dependent chromatin remodeler homologous to the is_associated_with::Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with is_associated_with::CHARGE syndrome.

Model organisms
is_associated_with::Model organisms have been used in the study of CHD7 function. A conditional is_associated_with::knockout mouse line, called Chd7tm2a(EUCOMM)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.



Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on is_associated_with::mutant mice and five significant abnormalities were observed. No is_associated_with::homozygous is_associated_with::mutant embryos were identified during gestation, and therefore none survived until is_associated_with::weaning. The remaining tests were carried out on is_associated_with::heterozygous mutant adult mice. Male heterozygotes displayed abnormal pelvic elevation in a modified is_associated_with::SHIRPA test and have a high incidence of is_associated_with::Bergmeister's papilla in both eyes. When the brains of heterozygous animals were studied, an absence of is_associated_with::corpus callosum was observed.