Homozygous: Mice showed showed a reduced frequency of T cells, an increase in the CD4+ to CD8+ T cell ratio due to an increased frequency of CD4+ T cells in CD3+ T cells with a concomitant reduced frequency of CD8+ T cells and CD8+ T cells in CD3+ T cells, all in the peripheral blood. Some mice also exhibited an increased frequency of effector memory CD4+ and CD8+ T cells, a decreased frequency of na ve CD8+ T cells, an increase in the CD44 mean fluorescence intensity (MFI) on CD4+ T cells, an increased level of total IgE, an increased frequency of neutrophils, and a decreased frequency of natural kller (NK) cells, all in the peripheral blood. Some mice also exhibited increased mouse cytomegalovirus (MCMV) viral titer in the liver after MCMV infection. The T-dependent antibody response to ovalbumin administered with aluminum hydroxide was also diminished.

Heterozygous: No signficant abnormal phenotype detected.

• Immunology and Inflammation
• Models for Human Disease
• Autosomal recessive T- and NK-cell negative/B-cell positive type of severe combined immunodeficiency [T-B+NK- SCID; OMIM: #600802]
• Virology

Zeng M, Wang K-W, Choi JH, Murray AR, Beutler B. Record for mount_tai. MUTAGENETIX, B. Beutler and colleagues, Center for the Genetics of Host Defense, UT Southwestern, Dallas, TX.