Gene

Plcb1

Species
Mus musculus
Symbol
Plcb1
Name
phospholipase C, beta 1
Synonyms
  • 3110043I21Rik
  • AI132408
Biotype
protein coding gene
Automated Description
Enables lamin binding activity and phosphatidylinositol phospholipase C activity. Involved in several processes, including G protein-coupled receptor signaling pathway; positive regulation of cell cycle process; and regulation of macromolecule biosynthetic process. Located in chromatin; cytoplasm; and nuclear speck. Part of protein-containing complex. Is active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and respiratory system. Used to study Alzheimer's disease and schizophrenia. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 12 and myelodysplastic syndrome. Orthologous to human PLCB1 (phospholipase C beta 1).
MGI Description
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10336
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

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          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Plcb1 molecule type
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            Genetic Interactions

            Plcb1 role
            Plcb1 genetic perturbation
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