Phenotypes Associated with This Genotype

Genotype
MGI:2654941

• Allelic Composition: Foxp3^tm1.1Ayr/Y
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

enlarged spleen ( J:82560 )

♂ • at P21, male hemizygotes exhibit an extremely enlarged spleen

abnormal CD4-positive, alpha beta T cell morphology ( J:82560 )

♂ • mutant CD4⁺ T cells exhibit an activated phenotype, showing increased CD69, CD44, CTLA-4 and GITR expression along with decreased expression of CD62L relative to wild-type CD4⁺ T cells

abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology ( J:82560 )

♂ • at P10, male hemizygotes display a significantly reduced CD4⁺CD25⁺ regulatory T cell population in both the lymph node and thymus relative to wild-type mice (0.4% and 0.6% vs 3.0% and 3.8%, respectively)

enlarged lymph nodes ( J:82560 )

♂ • at P21, male hemizygotes exhibit extremely enlarged lymph nodes

increased susceptibility to autoimmune disorder ( J:82560 )

♂ • male hemizygotes become moribund at ~4 weeks of age and eventually succumb to aggressive lymphoproliferative autoimmunity

♂ • overt signs of disease are first evident at ~P12, and include runting and scaly and inflamed skin on the ears and tail

skin inflammation ( J:82560 )

♂ • skin inflammation on the ears and tail, first evident at ~P12

hematopoietic system

enlarged spleen ( J:82560 )

♂ • at P21, male hemizygotes exhibit an extremely enlarged spleen

abnormal CD4-positive, alpha beta T cell morphology ( J:82560 )

♂ • mutant CD4⁺ T cells exhibit an activated phenotype, showing increased CD69, CD44, CTLA-4 and GITR expression along with decreased expression of CD62L relative to wild-type CD4⁺ T cells

abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology ( J:82560 )

♂ • at P10, male hemizygotes display a significantly reduced CD4⁺CD25⁺ regulatory T cell population in both the lymph node and thymus relative to wild-type mice (0.4% and 0.6% vs 3.0% and 3.8%, respectively)

growth/size/body

scaly ears ( J:82560 )

♂

decreased body size ( J:82560 )

♂ • runting is first evident at ~P12

enlarged spleen ( J:82560 )

♂ • at P21, male hemizygotes exhibit an extremely enlarged spleen

craniofacial

scaly ears ( J:82560 )

♂

hearing/vestibular/ear

scaly ears ( J:82560 )

♂

integument

skin inflammation ( J:82560 )

♂ • skin inflammation on the ears and tail, first evident at ~P12

scaly skin ( J:82560 )

♂ • scaly skin on the ears and tail, frist evident at ~P12