| Primary Identifier | MGI:97364 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 18129 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables NF-kappaB binding activity and enzyme binding activity. Involved in several processes, including left/right pattern formation; marginal zone B cell differentiation; and nephron development. Acts upstream of or within several processes, including cholangiocyte proliferation; ciliary body morphogenesis; and liver development. Located in cilium; nucleus; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Used to study Hajdu-Cheney syndrome and pre-eclampsia. Human ortholog(s) of this gene implicated in Alagille syndrome and Hajdu-Cheney syndrome. Orthologous to human NOTCH2 (notch receptor 2). PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in embryonic or neonatal lethality. [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
