Version: 8.0.0
Date: Tue Jan 28 2025
Specc1l
Mus musculusMGI:1921642
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Specc1l

Species
Mus musculus
Symbol
Specc1l
Name
sperm antigen with calponin homology and coiled-coil domains 1-like
Synonyms
  • 4930470P14Rik
  • 4932439K10Rik
Biotype
protein coding gene
Automated Description
Enables beta-catenin binding activity. Acts upstream of or within several processes, including anterior neural tube closure; negative regulation of protein depolymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cell-cell junction; cytoplasm; and cytoskeleton. Part of filamentous actin. Is expressed in 1st branchial arch maxillary component; branchial arch; eye; fronto-nasal process; and limb. Used to study Teebi hypertelorism syndrome 1 and cleft palate. Human ortholog(s) of this gene implicated in Teebi hypertelorism syndrome 1 and oblique facial clefting 1. Orthologous to human SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like).
MGI Description
PHENOTYPE: Homozygous knockout affects cranial neural crest cell migration, which causes neural tube closure defects and leads to embryonic lethality. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23167
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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      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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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

          Specc1l molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Specc1l role
            Specc1l genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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