Analysis Tools
neoplasm
digestive/alimentary system
 |
• severely affected colons appear dilated with thickened walls
• the intestinal mucosa appears thickened with crypt hyperplasia and a mixed lymphocytic and neutrophilic infiltrate within the lamina propria
|
|
|
• mutants with severe colitis exhibit crypt abscesses
|
|
|
• most mutants develop chronic colitis by 4 months of age
• large numbers of CD4+ and CD8+ T cells (but not B220+ B cells) are scattered throughout the lamina propria in affected mutants
|
endocrine/exocrine glands
|
|
• severely affected colons appear dilated with thickened walls
• the intestinal mucosa appears thickened with crypt hyperplasia and a mixed lymphocytic and neutrophilic infiltrate within the lamina propria
|
|
|
• mutants with severe colitis exhibit crypt abscesses
|
hematopoietic system
|
|
• in vitro, mutant T cells show defective proliferative responses and antigen receptor cap formation in reponse to anti-CD3epsilon mediated stimulation
|
|
|
• in mutant mice, lymphopenia is associated with slightly increased numbers of neutrophils but normal numbers of red blood cells
|
|
|
• mutants display modestly reduced numbers of platelets relative to wild-type mice
• notably, decreased platelet count is not associated with reduced platelet size or bleeding
|
|
|
• mutants show a significant reduction in the number of peripheral blood lymphocytes, despite normal lymphocyte numbers in the spleen and lymph nodes
• young mutant mice (<10 weeks) exhibit comparable decreases in B and T cell numbers in peripheral blood, with no significant changes in blood B to T cell ratios
|
immune system
|
N |
• mutants are viable, fertile and of normal weight, and exhibit normal lymphocyte development, serum immunoglobulin (Ig) levels and antibody responses relative to wild-type mice
|
|
|
• in vitro, mutant T cells show defective proliferative responses and antigen receptor cap formation in reponse to anti-CD3epsilon mediated stimulation
|
|
|
• most mutants develop chronic colitis by 4 months of age
• large numbers of CD4+ and CD8+ T cells (but not B220+ B cells) are scattered throughout the lamina propria in affected mutants
|
|
|
• in mutant mice, lymphopenia is associated with slightly increased numbers of neutrophils but normal numbers of red blood cells
|
|
|
• mutants show a significant reduction in the number of peripheral blood lymphocytes, despite normal lymphocyte numbers in the spleen and lymph nodes
• young mutant mice (<10 weeks) exhibit comparable decreases in B and T cell numbers in peripheral blood, with no significant changes in blood B to T cell ratios
|
cellular
|
|
• in vitro, mutant T cells show defective proliferative responses and antigen receptor cap formation in reponse to anti-CD3epsilon mediated stimulation
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Wiskott-Aldrich syndrome | DOID:9169 |
OMIM:301000 |
J:48836 | |
