Analysis Tools
mortality/aging
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• although born at the expected Mendelian frequency, 50% of homozygotes die within 3 months of birth
• nearly all homozygotes die prior to 6 months of age
• necropsy revealed dilated stomachs and intestines and Giardia infection, putatively due to impaired T cell development and/or function
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immune system
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• mutant thymi show a nearly complete absence of medulla, as shown by a reduced immunodetection of UEA-1+ medullary epithelial cells
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• after stimulation of thymocytes with concanavalin A or anti-CD3 antibody, homozygotes display significantly reduced concentrations of Ins(1,3,4,5)P4, but not Ins(1,4,5)P3, relative to similarly-treated wild-type controls
• however, no defects in calcium mobilization are observed following incubation of mutant thymocytes with ionomycin, or after stimulation with
CD3 mAb in the presence of EGTA, or with thapsigargin
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• although total thymus cellularity is increased at 4 weeks of age, mutant thymi appear to involute earlier than expected in older homozygotes, possibly due to stress caused by infection
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• homozygotes display higher numbers and % of double-positive thymocytes than wild-type controls
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• homozygotes display a developmental block between the double-positive and mature single-positive thymocyte stage
• no additional block during the transition from double-negative to double-positive thymocytes is observed
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• homozygotes display a nearly complete absence of mature CD4+ T cells in lymph nodes and spleen
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• homozygotes display a nearly complete absence of mature CD8+ T cells in lymph nodes and spleen
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• homozygotes display a near absence of single-positive (CD3hi and TCRalphabetahi) thymocytes
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• only levels of T cell-dependent immunoglobulin (Ig) isotypes (IgG1, IgG2a and IgG2b) are significantly reduced in sera of 8-week-old mutant mice
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• increased morbidity and mortality due to Giardia infection
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hematopoietic system
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• mutant thymi show a nearly complete absence of medulla, as shown by a reduced immunodetection of UEA-1+ medullary epithelial cells
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• after stimulation of thymocytes with concanavalin A or anti-CD3 antibody, homozygotes display significantly reduced concentrations of Ins(1,3,4,5)P4, but not Ins(1,4,5)P3, relative to similarly-treated wild-type controls
• however, no defects in calcium mobilization are observed following incubation of mutant thymocytes with ionomycin, or after stimulation with
CD3 mAb in the presence of EGTA, or with thapsigargin
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• although total thymus cellularity is increased at 4 weeks of age, mutant thymi appear to involute earlier than expected in older homozygotes, possibly due to stress caused by infection
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• homozygotes display higher numbers and % of double-positive thymocytes than wild-type controls
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• homozygotes display a developmental block between the double-positive and mature single-positive thymocyte stage
• no additional block during the transition from double-negative to double-positive thymocytes is observed
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• homozygotes display a nearly complete absence of mature CD4+ T cells in lymph nodes and spleen
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• homozygotes display a nearly complete absence of mature CD8+ T cells in lymph nodes and spleen
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• homozygotes display a near absence of single-positive (CD3hi and TCRalphabetahi) thymocytes
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• only levels of T cell-dependent immunoglobulin (Ig) isotypes (IgG1, IgG2a and IgG2b) are significantly reduced in sera of 8-week-old mutant mice
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behavior/neurological
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• homozygotes display a progressive reduction in mobility
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growth/size/body
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• homozygotes become progressively stunted
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• homozygotes exhibit abdominal swelling
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digestive/alimentary system
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• most homozygotes have dilated stomachs and intestines containing many giardia parasites
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integument
sparse hair
(
J:86257
)
endocrine/exocrine glands
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• mutant thymi show a nearly complete absence of medulla, as shown by a reduced immunodetection of UEA-1+ medullary epithelial cells
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• after stimulation of thymocytes with concanavalin A or anti-CD3 antibody, homozygotes display significantly reduced concentrations of Ins(1,3,4,5)P4, but not Ins(1,4,5)P3, relative to similarly-treated wild-type controls
• however, no defects in calcium mobilization are observed following incubation of mutant thymocytes with ionomycin, or after stimulation with
CD3 mAb in the presence of EGTA, or with thapsigargin
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• although total thymus cellularity is increased at 4 weeks of age, mutant thymi appear to involute earlier than expected in older homozygotes, possibly due to stress caused by infection
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