Version: 8.0.0
Date: Tue Jan 28 2025
Emg1
Mus musculusMGI:1315195
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Emg1

Species
Mus musculus
Symbol
Emg1
Name
EMG1 N1-specific pseudouridine methyltransferase
Synonyms
  • gene rich cluster, C2f gene
  • Grcc2f
Biotype
protein coding gene
Automated Description
Predicted to enable identical protein binding activity; rRNA (pseudouridine) methyltransferase activity; and rRNA binding activity. Acts upstream of or within blastocyst development and nucleologenesis. Predicted to be located in chromosome; nucleolus; and nucleoplasm. Predicted to be part of small-subunit processome. Predicted to be active in nucleus. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system; and integumental system. Used to study Bowen-Conradi syndrome. Human ortholog(s) of this gene implicated in Bowen-Conradi syndrome. Orthologous to human EMG1 (EMG1 N1-specific pseudouridine methyltransferase).
MGI Description
PHENOTYPE: Mice homozygous for a reporter allele fail to form blastocele and die after E3.5. Mice homozygous for another allele exhibit lethality between E8.5 and E12.5, growth retardation, defective enural tube closure, increased cell apoptosis and decreased cell proliferation. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12636
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
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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
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

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

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

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          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

          Emg1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Emg1 role
            Emg1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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