Primary Identifier | MGI:88331 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 12500 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity and transmembrane signaling receptor activity. Involved in positive thymic T cell selection. Part of alpha-beta T cell receptor complex. Is expressed in thymus primordium. Human ortholog(s) of this gene implicated in immunodeficiency 19 and severe combined immunodeficiency. Orthologous to human CD3D (CD3 delta subunit of T-cell receptor complex). PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired early thymic development, small numbers of peripheral TCR-alpha/beta+ T cells, and failure of T lymphocyte transition from double-positive to single-positive developmental stages. [provided by MGI curators] |