Version: 8.0.0
Date: Tue Jan 28 2025
Dhcr7
Mus musculusMGI:1298378
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Dhcr7

Species
Mus musculus
Symbol
Dhcr7
Name
7-dehydrocholesterol reductase
Synonyms
  • AA409147
  • expressed sequence AA409147
Biotype
protein coding gene
Automated Description
Enables 7-dehydrocholesterol reductase activity. Acts upstream of or within several processes, including blood vessel development; lung epithelial cell differentiation; and sterol biosynthetic process. Predicted to be located in endoplasmic reticulum and nuclear outer membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in adrenal gland; genitourinary system; and neural retina. Used to study Smith-Lemli-Opitz syndrome. Human ortholog(s) of this gene implicated in Behcet's disease and Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase).
MGI Description
PHENOTYPE: Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21257
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
    No data available

    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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          Data currently unavailable; sequence viewer under construction

          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

          Dhcr7 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            Dhcr7 role
            Dhcr7 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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