| Primary Identifier | MGI:1095416 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 16449 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Notch binding activity. Involved in several processes, including circulatory system development; nephron epithelium development; and positive regulation of Notch signaling pathway. Acts upstream of or within several processes, including ciliary body morphogenesis; negative regulation of cell differentiation; and positive regulation of cell differentiation. Located in adherens junction and apical plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Used to study Alagille syndrome. Human ortholog(s) of this gene implicated in Alagille syndrome; Charcot-Marie-Tooth disease; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Orthologous to human JAG1 (jagged canonical Notch ligand 1). PHENOTYPE: Homozygous null mutants exhibit extensive hemorrhaging and die prior to embryonic day 11.5, while heterozygotes exhibit defects of the eye. Heterozygotes for missense mutations have inner ear abnormalities. Other mutant mice display abnormal head movements. [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
