Phenotypes Associated with This Genotype

Genotype
MGI:2179512

• Allelic Composition: Il2ra^tm1Dw/Il2ra^tm1Dw
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

premature death ( J:64279 )

• about 25% die between 8 and 20 weeks of age with severe anemia

hematopoietic system

enlarged spleen ( J:64279 )

• develop enlargement of the spleen between 4 and 6 weeks of age

hemolytic anemia ( J:64279 )

• develops as mice age

decreased hematocrit ( J:64279 )

increased lymphocyte cell number ( J:64279 )

• polyclonal expansion of lymphocytes beginning between 4 and 6 weeks of age

abnormal T cell morphology ( J:64279 )

• T cells are slightly larger than in wild-type in adults, however T and B cell development is normal up to 4 weeks after birth

increased memory T cell number ( J:64279 )

• increased numbers of cells bearing marker for memory cells

abnormal B cell physiology ( J:64279 )

increased IgA level ( J:64279 )

• 5- to 30-fold increase in IgA

increased IgG level ( J:64279 )

• 5- to 30-fold increase in IgG1, IgG2a, and IgG2b

increased IgG1 level ( J:64279 )

increased IgG2a level ( J:64279 )

increased IgG2b level ( J:64279 )

abnormal T cell physiology ( J:64279 )

• proliferative responses to CD3 are reduced in T cells

• peripheral deletion of staphylococcal enterotoxin B (SEB)-reactive T cells is impaired

immune system

colitis ( J:64279 )

• starting at 12-16 weeks of age, develop severe bowel inflammation that is confined to the colon

increased lymphocyte cell number ( J:64279 )

• polyclonal expansion of lymphocytes beginning between 4 and 6 weeks of age

abnormal T cell morphology ( J:64279 )

• T cells are slightly larger than in wild-type in adults, however T and B cell development is normal up to 4 weeks after birth

increased memory T cell number ( J:64279 )

• increased numbers of cells bearing marker for memory cells

abnormal B cell physiology ( J:64279 )

increased IgA level ( J:64279 )

• 5- to 30-fold increase in IgA

increased IgG level ( J:64279 )

• 5- to 30-fold increase in IgG1, IgG2a, and IgG2b

increased IgG1 level ( J:64279 )

increased IgG2a level ( J:64279 )

increased IgG2b level ( J:64279 )

abnormal T cell physiology ( J:64279 )

• proliferative responses to CD3 are reduced in T cells

• peripheral deletion of staphylococcal enterotoxin B (SEB)-reactive T cells is impaired

abnormal lymph organ size ( J:64279 )

enlarged spleen ( J:64279 )

• develop enlargement of the spleen between 4 and 6 weeks of age

enlarged lymph nodes ( J:64279 )

• develop enlargement of the lymph nodes between 4 and 6 weeks of age

digestive/alimentary system

diarrhea ( J:64279 )

• starts at 12-16 weeks of age as mice develop inflammatory bowel disease

colitis ( J:64279 )

• starting at 12-16 weeks of age, develop severe bowel inflammation that is confined to the colon

growth/size/body

cachexia ( J:64279 )

• starts at 12-16 weeks of age as mice develop inflammatory bowel disease

enlarged spleen ( J:64279 )

• develop enlargement of the spleen between 4 and 6 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
inflammatory bowel disease		DOID:0050589	OMIM:PS266600	J:64279