Primary Identifier | MGI:1321402 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 16822 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within mast cell activation. Located in cell-cell junction. Is expressed in thymus primordium. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human LCP2 (lymphocyte cytosolic protein 2). PHENOTYPE: T cell development is blocked and T cell receptor signaling impaired in homozygous point mutants. Double positive thymocyte and single positive T cell numbers are much reduced. Both positive and negative thymocyte selection is abnormal. Mice have high IgG and IgE levels and exhibit autoimmunity. [provided by MGI curators] |