Primary Identifier | MGI:96545 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 16177 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables interleukin-1 binding activity; interleukin-1 receptor activity; and protease binding activity. Involved in interleukin-1-mediated signaling pathway. Acts upstream of or within several processes, including cytokine-mediated signaling pathway; positive regulation of interleukin-1-mediated signaling pathway; and positive regulation of neutrophil extravasation. Located in external side of plasma membrane. Is expressed in aorta-gonad-mesonephros; brain; liver; spleen; and uterus. Used to study Sjogren's syndrome and type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in chronic recurrent multifocal osteomyelitis; systemic scleroderma; and type 1 diabetes mellitus. Orthologous to human IL1R1 (interleukin 1 receptor type 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, reduced IL1b responsiveness, delayed tooth eruption, decreased susceptibility to experimental autoimmune uveoretinitis, decreased susceptibility to kidney reperfusion injury, and late onset obesity. Homozygosity for a mutation associated with arthritis in human leads to severe sensitivity to collagen antibody-induced arthritis. [provided by MGI curators] |