Phenotypes Associated with This Genotype

Genotype
MGI:3844892

hm1

• Allelic Composition: Rfx5^tm1.1Ifo/Rfx5^tm1.1Ifo
• Genetic Background: involves: 129 * C57BL/6

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

immune system

abnormal Kupffer cell morphology ( J:67941 )

• Kupffer cells do not express MHC II complexes

abnormal thymus cortex morphology ( J:67941 )

• thymus cortex is almost completely devoid of MHC-II expression

decreased CD4-positive, alpha-beta T cell number ( J:67941 )

• peripheral CD4⁺ T cell numbers are reduced more than 10-fold

decreased single-positive T cell number ( J:67941 )

• CD4 single-positive thymocyte numbers are decreased to 1.4% of thymocytes compared to 7.6% in wild-type controls

abnormal dendritic cell morphology ( J:67941 )

• class II expression on most CD11c⁺ dendritic cells is absent or is reduced

• only 1.2% of bone marrow derived dendritic cells express class II compared to 32% of wild-type controls

abnormal B lymphocyte antigen presentation ( J:67941 )

• unactivated B cells do not express class II on the surface and have 10-fold lower expression than controls when activated with LPS and IL-4

decreased IgG1 level ( J:67941 )

• antigen specific IgG1 levels are 100 to 1000-fold less than controls during the course of a secondary response to a T cell-dependent antigen

decreased IgM level ( J:67941 )

• mice fail to produce measurable antigen specific IgM levels in response to T cell dependent antigens

abnormal level of surface class II molecules ( J:67941 )

• thymus cortex is almost completely devoid of MHC-II expression while the thymic medulla cells strongly expresses MHC-II on their cell surface

• unactivated B cells do not express class II on the surface and have 10-fold lower expression than controls when activated with LPS and IL-4

• macrophages do not express class II nor do Kupffer cells in the liver

• class II expression on most CD11c⁺ dendritic cells is absent or is reduced

• only 1.2% of bone marrow derived dendritic cells express class II compared to 32% of wild-type controls

• peritoneal macrophages fail to upregulate class II expression in response to IFN-gamma

abnormal MHC II cell surface expression on macrophages ( J:67941 )

• macrophages do not express class II

• peritoneal macrophages fail to upregulate class II expression in response to IFN-gamma

hematopoietic system

abnormal Kupffer cell morphology ( J:67941 )

• Kupffer cells do not express MHC II complexes

abnormal thymus cortex morphology ( J:67941 )

• thymus cortex is almost completely devoid of MHC-II expression

decreased CD4-positive, alpha-beta T cell number ( J:67941 )

• peripheral CD4⁺ T cell numbers are reduced more than 10-fold

decreased single-positive T cell number ( J:67941 )

• CD4 single-positive thymocyte numbers are decreased to 1.4% of thymocytes compared to 7.6% in wild-type controls

abnormal dendritic cell morphology ( J:67941 )

• class II expression on most CD11c⁺ dendritic cells is absent or is reduced

• only 1.2% of bone marrow derived dendritic cells express class II compared to 32% of wild-type controls

abnormal B lymphocyte antigen presentation ( J:67941 )

• unactivated B cells do not express class II on the surface and have 10-fold lower expression than controls when activated with LPS and IL-4

decreased IgG1 level ( J:67941 )

• antigen specific IgG1 levels are 100 to 1000-fold less than controls during the course of a secondary response to a T cell-dependent antigen

decreased IgM level ( J:67941 )

• mice fail to produce measurable antigen specific IgM levels in response to T cell dependent antigens

abnormal MHC II cell surface expression on macrophages ( J:67941 )

• macrophages do not express class II

• peritoneal macrophages fail to upregulate class II expression in response to IFN-gamma

liver/biliary system

abnormal Kupffer cell morphology ( J:67941 )

• Kupffer cells do not express MHC II complexes

cardiovascular system

abnormal Kupffer cell morphology ( J:67941 )

• Kupffer cells do not express MHC II complexes

endocrine/exocrine glands

abnormal thymus cortex morphology ( J:67941 )

• thymus cortex is almost completely devoid of MHC-II expression