Primary Identifier | MGI:1335088 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 19201 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin binding activity. Predicted to be involved in cytoskeleton organization. Located in cytoskeleton; cytosol; and membrane. Used to study chronic recurrent multifocal osteomyelitis. Orthologous to human PSTPIP2 (proline-serine-threonine phosphatase interacting protein 2). PHENOTYPE: Homozygous mutant animals develop osteomyelitis (bone inflammation). Tail kinks are observed starting at 6-8 weeks of age and chronic inflammation of the extremities and ears is subsequently seen. Extramedullary hematopoiesis in the spleen is observed. [provided by MGI curators] |