Primary Identifier | MGI:1344364 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 24110 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ISG15-specific peptidase activity. Involved in response to stilbenoid. Acts upstream of or within response to bacterium. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in cytosol and nucleus. Is expressed in axial skeleton; lung; and mandible. Orthologous to several human genes including USP18 (ubiquitin specific peptidase 18). PHENOTYPE: Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS. [provided by MGI curators] |