Primary Identifier | MGI:88337 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 21947 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein serine/threonine kinase activator activity and signaling receptor binding activity. Involved in isotype switching. Acts upstream of or within B cell differentiation and regulation of immunoglobulin production. Located in external side of plasma membrane. Is expressed in Meckel's cartilage; dorsal root ganglion; and limb. Used to study inflammatory bowel disease and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in several diseases, including Kawasaki disease; artery disease (multiple); autoimmune disease (multiple); combined T cell and B cell immunodeficiency (multiple); and hematologic cancer (multiple). Orthologous to human CD40LG (CD40 ligand). PHENOTYPE: Nullizygous mutations affect T-dependent humoral responses, germinal center formation, isotype switching and T cell differentiation, and may alter osteoclastogenesis, thrombogenesis, and susceptibility to autoimmune diabetes and prion infection. ENU mutants fail to show an IgG response to rSFV. [provided by MGI curators] |