Analysis Tools
immune system
|
• decreased number of thymocytes, with an unclear corticomedullary junction and densely condensed epithelial structure in the cortex
|
|
• unclear corticomedullary junction
|
|
• no formation of cytokeratin networks
|
|
• reduced size of medulla
|
|
• severe hypoplasia at 2 and 4 weeks of age, containing 30-60 times fewer thymocytes than wildtype
|
|
• 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
|
|
• 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
|
small spleen
(
J:31231
)
|
• 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
|
|
• severe hypoplasia
|
|
• absent peripheral lymph nodes
|
hematopoietic system
|
• decreased number of thymocytes, with an unclear corticomedullary junction and densely condensed epithelial structure in the cortex
|
|
• unclear corticomedullary junction
|
|
• no formation of cytokeratin networks
|
|
• reduced size of medulla
|
|
• severe hypoplasia at 2 and 4 weeks of age, containing 30-60 times fewer thymocytes than wildtype
|
|
• 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
|
|
• 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
|
small spleen
(
J:31231
)
|
• 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
|
|
• unclear corticomedullary junction
|
|
• no formation of cytokeratin networks
|
|
• reduced size of medulla
|
|
• 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 |
DO ID | OMIM ID(s) | Ref(s) | |
| severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive | DOID:0090014 |
OMIM:608971 |
J:31231 | |
