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Phenotypes Associated with This Genotype
Genotype
MGI:3525574
Allelic
Composition
Wastm1Sbs/Wastm1Sbs
Genetic
Background
either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Wastm1Sbs mutation (2 available); any Was mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• in vitro, mutant T cells show defective proliferative responses and antigen receptor cap formation in reponse to anti-CD3epsilon mediated stimulation

neoplasm
N
• young mutant mice develop neither hematopoeitic malignancies nor eczema

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Wiskott-Aldrich syndrome DOID:9169 OMIM:301000
J:48836


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2020
MGI 6.15
The Jackson Laboratory