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 8.0.0) 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 activation of protein kinase B activity; cholangiocyte proliferation; and liver development. Located in cilium; nucleus; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; 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] |