Version: 8.0.0
Date: Tue Jan 28 2025
Cilk1
Mus musculusMGI:1934157
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Cilk1

Species
Mus musculus
Symbol
Cilk1
Name
ciliogenesis associated kinase 1
Synonyms
  • 2210420N10Rik
  • AI848300
Biotype
protein coding gene
Automated Description
Enables protein serine/threonine kinase activity. Involved in cilium organization and protein phosphorylation. Located in several cellular components, including ciliary basal body; ciliary base; and ciliary tip. Is expressed in several structures, including adipose tissue; alimentary system; eye; genitourinary system; and nervous system. Used to study endocrine-cerebro-osteodysplasia syndrome. Human ortholog(s) of this gene implicated in endocrine-cerebro-osteodysplasia syndrome and juvenile myoclonic epilepsy 10. Orthologous to human CILK1 (ciliogenesis associated kinase 1).
MGI Description
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal primary cilium morphology and Shh signaling during limb digit patterning, peripheral edema, cleft palate, hydrocephalus, polydactyly, delayed skeletal development, and embryonic lethality at late stages of gestation. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24055
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
References
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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
    Evidence
    Source
    Based On
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
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        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
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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
            78.02M78.03M78.04M78.05M78.06M78.07M

            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

            Cilk1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Cilk1 role
              Cilk1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
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