Mouse Genome Informatics
hm
    Jak3tm1Tks/Jak3tm1Tks
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
immune system
• decreased number of thymocytes, with an unclear corticomedullary junction and densely condensed epithelial structure in the cortex
• reduced size of medulla
• no formation of cytokeratin networks
• severe hypoplasia at 2 and 4 weeks of age, containing 30-60 times fewer thymocytes than wildtype
• B cell depletion in spleen of 2-week-old mutants
• hypoplasia of surface IgM+ B cell population in spleen and bone marrow
• CD43-B220+ cells containing majority of pre-B cells were decreased 10- to 40-fold in the bone marrow compared to wildtype, however the number of immature CD43+B220- cells was not altered
• NK cells were absent in spleen
• thymocyte size was drastically reduced
• no T cells detected at 2 weeks of age, however T cells appeared in spleen as mutant mice aged (at 4 weeks)
• absence of Thy1+ dendritic epidermal T cells in epidermal sheets from skin and intestine
• almost complete absence of intraepithelial lymphocytes, except for the reduced number of CD4+ T cells
• thymus contained 30-60 times fewer thymocytes than in wildtype
• increased ratio of CD4+ versus CD8+ single-positive T cells in thymus and spleen which was age dependent in splenocytes
• precursors of thymoctyes (Lin-c-kit+ double-negative cells) were hardly detected in thymus, however the number and function of hematopoietic stem cells in the bone marrow and spleen were not altered, indicating that only lymphoid stem cells had defects in lymphocyte development
• impaired development of immature and mature B cells
• smaller at 5 weeks of age
• mild to moderate, containing 4-10 times fewer splenocytes than wildtype
• white pulp, composed mainly of surface IgM+ B cells and CD4+ T cells, appeared to be scattered, although they were diminished in number and size in 4-week old mutants
• periarteriolar lymphoid sheath was absent
• thymocytes from 4-week old mutants did not respond to the cytokines, IL-2, IL-4, or IL-7, even though the cells proliferated upon stimulation with PMA plus ionophore at a comparable level to wildtype
• absent peripheral lymph nodes

hematopoietic system
• decreased number of thymocytes, with an unclear corticomedullary junction and densely condensed epithelial structure in the cortex
• reduced size of medulla
• no formation of cytokeratin networks
• severe hypoplasia at 2 and 4 weeks of age, containing 30-60 times fewer thymocytes than wildtype
• B cell depletion in spleen of 2-week-old mutants
• hypoplasia of surface IgM+ B cell population in spleen and bone marrow
• CD43-B220+ cells containing majority of pre-B cells were decreased 10- to 40-fold in the bone marrow compared to wildtype, however the number of immature CD43+B220- cells was not altered
• NK cells were absent in spleen
• thymocyte size was drastically reduced
• no T cells detected at 2 weeks of age, however T cells appeared in spleen as mutant mice aged (at 4 weeks)
• absence of Thy1+ dendritic epidermal T cells in epidermal sheets from skin and intestine
• almost complete absence of intraepithelial lymphocytes, except for the reduced number of CD4+ T cells
• thymus contained 30-60 times fewer thymocytes than in wildtype
• increased ratio of CD4+ versus CD8+ single-positive T cells in thymus and spleen which was age dependent in splenocytes
• precursors of thymoctyes (Lin-c-kit+ double-negative cells) were hardly detected in thymus, however the number and function of hematopoietic stem cells in the bone marrow and spleen were not altered, indicating that only lymphoid stem cells had defects in lymphocyte development
• impaired development of immature and mature B cells
• smaller at 5 weeks of age
• mild to moderate, containing 4-10 times fewer splenocytes than wildtype
• white pulp, composed mainly of surface IgM+ B cells and CD4+ T cells, appeared to be scattered, although they were diminished in number and size in 4-week old mutants
• periarteriolar lymphoid sheath was absent
• thymocytes from 4-week old mutants did not respond to the cytokines, IL-2, IL-4, or IL-7, even though the cells proliferated upon stimulation with PMA plus ionophore at a comparable level to wildtype

endocrine/exocrine glands
• decreased number of thymocytes, with an unclear corticomedullary junction and densely condensed epithelial structure in the cortex
• reduced size of medulla
• no formation of cytokeratin networks
• severe hypoplasia at 2 and 4 weeks of age, containing 30-60 times fewer thymocytes than wildtype
• thymus contained 30-60 times fewer thymocytes than in wildtype

Mouse Models of Human Disease
OMIM IDRef(s)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 608971 J:31231