Phenotypes Associated with This Genotype

Genotype
MGI:3617399

• Allelic Composition: Ciita^tm1Ccum/Ciita^tm1Ccum
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

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

immune system

abnormal T cell differentiation ( J:64283 )

decreased CD4-positive, alpha-beta T cell number ( J:31601 )

• mice have reduced numbers of mature CD4+ T cells in the periphery

increased CD4-positive, alpha-beta T cell number ( J:64283 )

• in spleen cells, there is a 4.5-fold increase of CD4+CD69^high cells in mutants at 8 weeks after parasite infection

increased CD8-positive, alpha-beta T cell number ( J:64283 )

• in spleen cell, a slight increase in the number of CD8+ T cells compared to wild-type is seen pre- and post-infection

abnormal lymphocyte physiology ( J:96421 )

abnormal B cell physiology ( J:96421 )

• the expression of IL-10 after stimulation with LPS of IL-4 for 3 days is enhanced in mutant B cells by about 2-3 fold

abnormal T cell physiology ( J:31601 )

decreased T cell proliferation ( J:31601 )

• T cells proliferate poorly in response to keyhole limpet hemocyanin stimulation compared to wild-type

abnormal CD4-positive, alpha-beta T cell physiology ( J:31601 )

• CD4+ T cell responses are significantly reduced to allogeneic stimulation

• when day 16 fetal liver cells are transferred into wild-type mice, CD4+ T cell development is normal and when wild-type fetal cells are transferred into homozygotes, CD4+ T cells fail to mature

abnormal popliteal lymph node morphology ( J:64283 )

• total numbers of cells in lymph nodes of null increased only slightly after infection with L. amazonensis compared with an 8-fold increase in size of wild-type

abnormal dendritic cell physiology ( J:96421 )

• Bone marrow-derived mutant dendritic cells in culture differentiate in response to GM-CSF despite absence of MHC class II molecules; however, when stimulated with LPS of CpG display about a 2-fold increase in IL-10 expression compared to wild-type

abnormal level of surface class II molecules ( J:31601 , J:96421 )

• MHC class II molecules are not detected in organs of mutants, except for interdigitating reticular cells where expression is not induced by interferon-gamma injection (J:31601)

• bone marrow-derived dendritic cells do not express MHC class II molecules (J:96421)

abnormal MHC II cell surface expression on macrophages ( J:31601 )

• macrophages do not express MHC II cell surface expression on interferon-gamma stimulation

abnormal cytokine secretion ( J:64283 )

• spleen and lymph node cells produced no measurable cytokines at 8 weeks after infection

abnormal susceptibility to infection ( J:64283 )

decreased susceptibility to parasitic infection ( J:64283 )

• after infection with L. Amazonensis, mice show no lesion development up to 11 weeks post infection, reduced cellular infiltration, lower parasite load and few cells in the popliteal lymph nodes draining the foot

• after infection with L. amazonensis, infected cells contained tightly packed organisms with few parasitophorous vacuole visible whereas infected macrophages in wild-type mice contained only a few organisms which are preferentially located at the edge of parasitophorous vacuoles

increased susceptibility to parasitic infection ( J:64283 )

• lesions become significantly larger with higher parasitic burdens 16 weeks after infection with L. major, compared to eventual lesion resolution in wild-type mice

hematopoietic system

abnormal T cell differentiation ( J:64283 )

decreased CD4-positive, alpha-beta T cell number ( J:31601 )

• mice have reduced numbers of mature CD4+ T cells in the periphery

increased CD4-positive, alpha-beta T cell number ( J:64283 )

• in spleen cells, there is a 4.5-fold increase of CD4+CD69^high cells in mutants at 8 weeks after parasite infection

increased CD8-positive, alpha-beta T cell number ( J:64283 )

• in spleen cell, a slight increase in the number of CD8+ T cells compared to wild-type is seen pre- and post-infection

abnormal lymphocyte physiology ( J:96421 )

abnormal B cell physiology ( J:96421 )

• the expression of IL-10 after stimulation with LPS of IL-4 for 3 days is enhanced in mutant B cells by about 2-3 fold

abnormal T cell physiology ( J:31601 )

decreased T cell proliferation ( J:31601 )

• T cells proliferate poorly in response to keyhole limpet hemocyanin stimulation compared to wild-type

abnormal CD4-positive, alpha-beta T cell physiology ( J:31601 )

• CD4+ T cell responses are significantly reduced to allogeneic stimulation

• when day 16 fetal liver cells are transferred into wild-type mice, CD4+ T cell development is normal and when wild-type fetal cells are transferred into homozygotes, CD4+ T cells fail to mature

abnormal MHC II cell surface expression on macrophages ( J:31601 )

• macrophages do not express MHC II cell surface expression on interferon-gamma stimulation

cellular

decreased T cell proliferation ( J:31601 )

• T cells proliferate poorly in response to keyhole limpet hemocyanin stimulation compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
MHC class II deficiency		DOID:5812	OMIM:209920	J:31601