Phenotypes Associated with This Genotype

Genotype
MGI:2655194

• Allelic Composition: Il2rg^tm1Sug/Y
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S6/SvEvTac * C57BL/6)

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

hematopoietic system

thymus cortex hypoplasia ( J:31167 )

♂

small thymus ( J:31167 )

♂

thymus hypoplasia ( J:31167 )

♂

enlarged spleen ( J:31167 )

♂

arrested B cell differentiation ( J:31167 )

♂ • arrested B cell development after the pro-B cell stage

abnormal myelopoiesis ( J:31167 )

♂ • increased numbers of myelocyte blast cells in spleen and peripheral blood

increased megakaryocyte cell number ( J:31167 )

♂

abnormal proerythroblast morphology ( J:31167 )

♂ • increased numbers of erythroid blast cells in spleen and peripheral blood

increased neutrophil cell number ( J:31167 )

♂ • increased numbers of neutrophil blast cells in spleen and peripheral blood

decreased lymphocyte cell number ( J:31167 )

♂ • reduced lymphocyte numbers in the bone marrow

♂ • decreased total peripheral blood lymphocyte number

absent NK cells ( J:31167 )

♂ • absence of NK cells

decreased T cell number ( J:31167 )

♂

decreased thymocyte number ( J:31167 )

♂

increased macrophage cell number ( J:31167 )

♂ • increased numbers of monocytes/macrophages in spleen and peripheral blood

increased monocyte cell number ( J:31167 )

♂ • increased numbers of monocytes/macrophages in spleen and peripheral blood

absent spleen white pulp ( J:31167 )

♂

abnormal splenic cell ratio ( J:31167 )

♂ • increased numbers of F4/80⁺ cells

♂ • reduced numbers of CD45R⁺/IgM⁺ cells

abnormal immunoglobulin level ( J:31167 )

♂ • increased IgM serum levels at 8 weeks, but decreased at 10-11 weeks

decreased IgG level ( J:31167 )

♂ • decreased IgG and IgG3 serum levels

decreased IgG3 level ( J:31167 )

♂

immune system

abnormal immune system cell morphology ( J:31167 )

♂

arrested B cell differentiation ( J:31167 )

♂ • arrested B cell development after the pro-B cell stage

abnormal myelopoiesis ( J:31167 )

♂ • increased numbers of myelocyte blast cells in spleen and peripheral blood

increased neutrophil cell number ( J:31167 )

♂ • increased numbers of neutrophil blast cells in spleen and peripheral blood

decreased lymphocyte cell number ( J:31167 )

♂ • reduced lymphocyte numbers in the bone marrow

♂ • decreased total peripheral blood lymphocyte number

absent NK cells ( J:31167 )

♂ • absence of NK cells

decreased T cell number ( J:31167 )

♂

decreased thymocyte number ( J:31167 )

♂

increased macrophage cell number ( J:31167 )

♂ • increased numbers of monocytes/macrophages in spleen and peripheral blood

increased monocyte cell number ( J:31167 )

♂ • increased numbers of monocytes/macrophages in spleen and peripheral blood

abnormal immune system organ morphology ( J:31167 )

♂

thymus cortex hypoplasia ( J:31167 )

♂

small thymus ( J:31167 )

♂

thymus hypoplasia ( J:31167 )

♂

enlarged spleen ( J:31167 )

♂

absent spleen white pulp ( J:31167 )

♂

abnormal splenic cell ratio ( J:31167 )

♂ • reduced numbers of CD45R⁺/IgM⁺ cells

♂ • increased numbers of F4/80⁺ cells

enlarged Peyer's patches ( J:31167 )

♂

small lymph nodes ( J:31167 )

♂ • small, barely detectable, peripheral lymph nodes

abnormal immune serum protein physiology ( J:31167 )

♂

abnormal immunoglobulin level ( J:31167 )

♂ • increased IgM serum levels at 8 weeks, but decreased at 10-11 weeks

decreased IgG level ( J:31167 )

♂ • decreased IgG and IgG3 serum levels

decreased IgG3 level ( J:31167 )

♂

endocrine/exocrine glands

thymus cortex hypoplasia ( J:31167 )

♂

small thymus ( J:31167 )

♂

thymus hypoplasia ( J:31167 )

♂

decreased thymocyte number ( J:31167 )

♂

growth/size/body

enlarged spleen ( J:31167 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	combined T cell and B cell immunodeficiency	DOID:628		J:31167
NOT	X-linked severe combined immunodeficiency	DOID:0060013	OMIM:300400	J:31167