| Primary Identifier | MGI:97363 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 18128 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including Notch binding activity; transcription coactivator activity; and transcription regulator activator activity. Involved in several processes, including circulatory system development; negative regulation of cell differentiation; and regulation of signal transduction. Acts upstream of or within several processes, including circulatory system development; epithelial cell differentiation; and regulation of epithelial cell differentiation. Located in several cellular components, including adherens junction; apical plasma membrane; and cell surface. Is active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic density membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome; adult T-cell leukemia/lymphoma; aortic valve disease 1; and congenital heart disease. Orthologous to human NOTCH1 (notch receptor 1). PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. [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
