| Primary Identifier | MGI:88276 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 12387 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) 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 fascia adherens. 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). 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
