Mouse Genome Informatics
hm1
    Airetm1Pltn/Airetm1Pltn
B6.129S4-Airetm1Pltn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• male mice exhibit normal spleen morphology and size (J:115076)
• sera does not recognize human APS I autoantigens (J:115076)
• alpha-GalCer-induced
• alpha-GalCer-induced thymocyte proliferation is lower than in wild-type mice
• 3 of 8 mice exhibit increased frequency of B220+ B cells in the thymus compared with wild-type mice
• aged mice exhibit increased B cell infiltrate in the liver and thymus compared with wild-type mice
• mice exhibit fewer invariant NKT cells in the thymus, spleen, liver, and bone marrow compared with wild-type mice
• increased in numbers in the marginal zone and blood
• mice exhibit increased proliferation at the early and late stages of myelogenesis and accelerated differentiation of monocytic precursors compared with wild-type mice
• in aged female mice
• in aged female mice
• 4 of 11 mice exhibit marginal zone hyperplasia compared with wild-type mice
• mice exhibit impaired invariant NK T cell maturation compared with wild-type mice
• in CD45- cells induced with alpha-GalCer
• alpha-GalCer-induced
• B cell infiltration

tumorigenesis

growth/size/body
• in female mice at 15 to 24 months of age
• however, male mice have normal body weight

liver/biliary system
• B cell infiltration

hematopoietic system
• alpha-GalCer-induced
• alpha-GalCer-induced thymocyte proliferation is lower than in wild-type mice
• mice fail to exhibit age-dependent extramedullary hematopoiesis in the spleen unlike wild-type mice
• mice exhibit increased turnover of monocytic myeloid precursors in the bone marrow compared to in wild-type mice
• 3 of 8 mice exhibit increased frequency of B220+ B cells in the thymus compared with wild-type mice
• aged mice exhibit increased B cell infiltrate in the liver and thymus compared with wild-type mice
• mice exhibit fewer invariant NKT cells in the thymus, spleen, liver, and bone marrow compared with wild-type mice
• increased in numbers in the marginal zone and blood
• mice exhibit increased proliferation at the early and late stages of myelogenesis and accelerated differentiation of monocytic precursors compared with wild-type mice
• in aged female mice
• in aged female mice
• 4 of 11 mice exhibit marginal zone hyperplasia compared with wild-type mice
• mice exhibit impaired invariant NK T cell maturation compared with wild-type mice

cellular
• alpha-GalCer-induced

endocrine/exocrine glands
• alpha-GalCer-induced thymocyte proliferation is lower than in wild-type mice


Mouse Genome Informatics
hm2
    Airetm1Pltn/Airetm1Pltn
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
endocrine/exocrine glands
• absence of the adrenal glands is seen with incomplete penetrance; however, the thyroid and pancreas are normal
• thymic atrophy is seen in 2 of 14 mutants

immune system
• thymic atrophy is seen in 2 of 14 mutants
• the TCR-Vbeta repertoire is altered in peripheral T cells
• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls
• 73% of homozygous mice generated autoantibodies against at least one of the organs (liver, testis, pancreas and adrenal gland) tested and 40% of mice contain autoantibodies against two or more of the organs
• 50% of mutants exhibit accumulation of lymphocytes in periportal regions

liver/biliary system
• 50% of mutants exhibit accumulation of lymphocytes in periportal regions

reproductive system
• 85% of male or female mutants fail to produce any litters

hematopoietic system
• thymic atrophy is seen in 2 of 14 mutants
• the TCR-Vbeta repertoire is altered in peripheral T cells
• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls


Mouse Genome Informatics
hm3
    Airetm1Pltn/Airetm1Pltn
NOD.129S4-Airetm1Pltn
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• mice exhibit fewer invariant NKT cells in the thymus, spleen, liver, and bone marrow compared with wild-type mice

hematopoietic system
• mice exhibit fewer invariant NKT cells in the thymus, spleen, liver, and bone marrow compared with wild-type mice


Mouse Genome Informatics
ht4
    Airetm1Pltn/Aire+
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• crosses of heterozygous with heterozygous breeding sets exhibit a 44% reduction in fertility compared to controls