Gene

Chd7

Species
Mus musculus
Symbol
Chd7
Name
chromodomain helicase DNA binding protein 7
Synonyms
  • A730019I05Rik
  • cyclone
Biotype
protein coding gene
Automated Description
Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and promoter-specific chromatin binding activity. Acts upstream of or within several processes, including circulatory system development; embryonic morphogenesis; and nervous system development. Located in nucleus. Is expressed in several structures, including alimentary system; embryo mesenchyme; lung; nervous system; and sensory organ. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in CHARGE syndrome and hypogonadotropic hypogonadism 5 with or without anosmia. Orthologous to human CHD7 (chromodomain helicase DNA binding protein 7).
MGI Description
PHENOTYPE: Heterozygotes for mutations of this gene show a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, tail-kink and reproductive system anomalies. Heterozygotes for a null allele show mild cerebellar hypoplasia and distinct cerebellar foliation anomalies. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45623
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
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          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            8.70M8.72M8.74M8.76M8.78M8.80M8.82M8.84M8.86M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Chd7 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
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              Genetic Interactions

              Chd7 role
              Chd7 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
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