Version: 8.0.0
Date: Tue Jan 28 2025
Chd7
Mus musculusMGI:2444748
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
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
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
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page
      Download all Alleles/Variants for all genes of the species

      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
      No records match query. Try removing filters.
      Showing 0 - 0 of 0 rows
      per page

        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
        No records match query. Try removing filters.
        Showing 0 - 0 of 0 rows
        per page

          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

          Loading...

          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
          Source
          Reference
          No records match query. Try removing filters.
          Showing 0 - 0 of 0 rows
          per page

            Genetic Interactions

            Chd7 role
            Chd7 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
            No records match query. Try removing filters.
            Showing 0 - 0 of 0 rows
            per page