Phenotypes Associated with This Genotype

Genotype
MGI:4881338

• Allelic Composition: Foxp3^sf/Y
• Genetic Background: B6.Cg-Foxp3^sf

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

hematopoietic system

decreased megakaryocyte cell number ( J:167802 )

♂ • mutants exhibit about 4-fold less mature bone marrow megakaryocytes than controls

abnormal megakaryocyte progenitor cell morphology ( J:167802 )

♂ • mutants exhibit about a 50% reduction in megakaryocyte progenitors

thrombocytopenia ( J:167802 )

♂ • mutants exhibit up to 53% fewer platelets than controls

increased mean platelet volume ( J:167802 )

♂

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

♂

decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:82560 )

♂ • at 10 days of age there are significantly fewer CD4⁺ CD25⁺ T cells in the lymph nodes and thymus compared with controls and transfer of CD4⁺ CD25⁺ T cells from wild-type donors into 1- to 2-day old hemizygous pups rescues the disease phenotype

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

♂ • CD4⁺ CD25⁺ T cells from 28 day old lymph nodes proliferate abnormally in response to TCR stimulation and fail to provide suppressor activity

♂ • transfer of CD4⁺ T cells from hemizygotes into RAG1 deficient hosts transfers the wasting disease and colitis and co-transfer of CD4⁺ CD25⁺ from wild-type donors prevents the development of this disease

homeostasis/metabolism

abnormal homeostasis ( J:167802 )

♂ • mutants exhibit reduced serum levels of TGF-beta and increased serum levels of CD40L, TXB2, and 12(S)-HETE, suggesting altered platelet release

immune system

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

♂

decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:82560 )

♂ • at 10 days of age there are significantly fewer CD4⁺ CD25⁺ T cells in the lymph nodes and thymus compared with controls and transfer of CD4⁺ CD25⁺ T cells from wild-type donors into 1- to 2-day old hemizygous pups rescues the disease phenotype

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

♂ • CD4⁺ CD25⁺ T cells from 28 day old lymph nodes proliferate abnormally in response to TCR stimulation and fail to provide suppressor activity

♂ • transfer of CD4⁺ T cells from hemizygotes into RAG1 deficient hosts transfers the wasting disease and colitis and co-transfer of CD4⁺ CD25⁺ from wild-type donors prevents the development of this disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		DOID:0090110	OMIM:304790	J:167802