Mouse Genome Informatics
hm1
    Icostm1Flv/Icostm1Flv
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• T lymphocyte development normal in the thymus (J:87123)
• production of IgE reduced
• reduction of IgG1 levels
• defect indicated by low Il-4 levels and low IgG1 and IgE levels
• Th2 differentiation normal but function disrupted
• Ifn-gamma levels were normal to slightly increased
• Il-2 production defective
• Il-4 production very low
• Il-10 levels normal
• Il-13 levels reduced
• lymph nodes were small in immunized mice
• about 1/2 as many cells/node as in wild-type mice
• greater succeptibility to experimental autoimmune encephalitis

homeostasis/metabolism
• Ifn-gamma levels were normal to slightly increased
• Il-13 levels reduced
• Il-2 production defective
• Il-4 production very low
• Il-10 levels normal

hematopoietic system
• production of IgE reduced
• reduction of IgG1 levels
• defect indicated by low Il-4 levels and low IgG1 and IgE levels
• Th2 differentiation normal but function disrupted

Mouse Models of Human Disease
OMIM IDRef(s)
Immunodeficiency, Common Variable, 1; CVID1 607594 J:87123


Mouse Genome Informatics
hm2
    Icostm1Flv/Icostm1Flv
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• T cells from mice immunized with keyhole limpet hemocyanin (KLH) in CFA (conjugated Freund's adjuvant) produce less IL-4, IL-17a and interferon gamma than wild-type in response to KLH restimulation


Mouse Genome Informatics
hm3
    Icostm1Flv/Icostm1Flv
NOD.129S1-Icostm1Flv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• development of lymphocytes is normal (J:131529)
• only a few mice develop marginal levels of inflammation of the islets
• the number of CD25+ and FoxP3+ CD4 T cells in the periphery and pancreatic draining lymph nodes is decreased 30% compared to in heterozygotes
• the frequency of IFN-gamma+ T cells is decreased compared to in heterozygous mice
• the frequency of IFN-gamma+ T cells is decreased compared to in heterozygous mice
• after 60 weeks, no mice develop diabetes compared with 65% of heterozygotes and 75% in wild-type NOD mice
• anti-GAD65 and anti-insulin antibodies are decreased 3- to 5-fold compared to in heterozygotes
• decreased 3- to 5-fold compared to in heterozygotes

endocrine/exocrine glands
N
• mice exhibit normal numbers of pancreatic islets (J:131529)
• only a few mice develop marginal levels of inflammation of the islets

hematopoietic system
• the number of CD25+ and FoxP3+ CD4 T cells in the periphery and pancreatic draining lymph nodes is decreased 30% compared to in heterozygotes
• the frequency of IFN-gamma+ T cells is decreased compared to in heterozygous mice


Mouse Genome Informatics
ht4
    Icostm1Flv/Icos+
NOD.129S1-Icostm1Flv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
endocrine/exocrine glands
• severe

immune system
• severe


Mouse Genome Informatics
cx5
    Cd86tm2Shr/Cd86tm2Shr
Icostm1Flv/Icostm1Flv

involves: 129S1/Sv * 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• T cells from mice immunized with keyhole limpet hemocyanin (KLH) in CFA (conjugated Freund's adjuvant) produce no IL-4, IL-17a or interferon gamma in response to KLH restimulation

homeostasis/metabolism
• T cells from mice immunized with keyhole limpet hemocyanin (KLH) in CFA (conjugated Freund's adjuvant) produce no IL-4, IL-17a or interferon gamma in response to KLH restimulation


Mouse Genome Informatics
cx6
    Icostm1Flv/Icostm1Flv
Tg(TcraTcrb)425Cbn/0

involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• naive CD4 T cells cultured with OVA peptide-loaded wild-type splenic antigen presenting cells (APCs) and restimulated with anti-CD3 and secrete less IL-4 and IL-17a and more interferon gamma (Ifng) than stimulated wild-type CD4 T cells
• CD4 T cells cultured with OVA peptide-loaded spleen cells from B7 (CD80/86) deficient mice then restimulated with anti-CD3 do not produce IL-4, IL-17a or Ifng


Mouse Genome Informatics
cx7
    Icostm1Flv/Icostm1Flv
Tg(Cd4-Maf)6666Glm/0

involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• T cells activated for 4 days with anti-CD3 and wild-type antigen presenting cells produce more IL-4 than controls but production of IL-17a and interferon gamma is much lower


Mouse Genome Informatics
cx8
    Icostm1Flv/Icostm1Flv
Rc3h1san/Rc3h1+

involves: 129S1/Sv * C57BL/6 * C57BL/6JSfdAnu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• tumor incidence (about 20%) is reduced compared to Rc3h1 heterozygotes (more than 50%)
• 5 of 25 double mutants develop T cell lymphoma