| Primary Identifier | MGI:2684861 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 195046 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and nucleic acid binding activity. Involved in positive regulation of interleukin-1 beta production and response to muramyl dipeptide. Acts upstream of or within defense response to bacterium and programmed necrotic cell death. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of NLRP1 inflammasome complex. Human ortholog(s) of this gene implicated in vitiligo. Orthologous to human NLRP1 (NLR family pyrin domain containing 1). PHENOTYPE: Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death. [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
