Version: 8.0.0Date: Tue Jan 28 2025
Gene
Ctnnb1
- Species
- Mus musculus
- Symbol
- Ctnnb1
- Name
- catenin beta 1
- Synonyms
- batface
- beta catenin
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including alpha-catenin binding activity; disordered domain specific binding activity; and enzyme binding activity. Involved in several processes, including nervous system development; regulation of neurogenesis; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic morphogenesis; kidney development; and positive regulation of cell population proliferation. Located in several cellular components, including apicolateral plasma membrane; basolateral plasma membrane; and euchromatin. Part of several cellular components, including Scrib-APC-beta-catenin complex; Wnt signalosome; and nucleus. Is active in several cellular components, including Schaffer collateral - CA1 synapse; postsynaptic density, intracellular component; and synaptic membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Used to study autism spectrum disorder; exudative vitreoretinopathy; otitis media; reproductive organ cancer (multiple); and urinary bladder cancer. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant intellectual developmental disorder 19; exudative vitreoretinopathy 7; hepatocellular carcinoma (multiple); nephroblastoma; and pilomatrixoma. Orthologous to human CTNNB1 (catenin beta 1).
- MGI Description
- PHENOTYPE: Homozygous null embryos show anterior-posterior axis formation anomalies, but develop to E7. Multiple conditional mutations have shown defects in distinct stem cell types that result in proliferation defects, such as intestinal polyps, brain and spinal cord size anomalies, etc. Inducible KO in endothelial cells affects retinal angiogenesis. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR45976
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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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
- Chr9:120762466...120789573 + (27.11 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.