Gene

Chkb

Species
Mus musculus
Symbol
Chkb
Name
choline kinase beta
Synonyms
  • Chetk
  • Chkl
Biotype
protein coding gene
Automated Description
Enables choline kinase activity. Acts upstream of or within muscle organ development and phosphatidylcholine biosynthetic process. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; heart; and sensory organ. Used to study megaconial type congenital muscular dystrophy. Human ortholog(s) of this gene implicated in intellectual disability; megaconial type congenital muscular dystrophy; muscular dystrophy; narcolepsy; and recurrent hypersomnia. Orthologous to human CHKB (choline kinase beta).
MGI Description
PHENOTYPE: Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR22603
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

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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          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

          Chkb molecule type
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            Genetic Interactions

            Chkb role
            Chkb genetic perturbation
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