Mouse Genome Informatics
hm1
    Wastm1Sbs/Wastm1Sbs
129S6/SvEvTac-Wastm1Sbs/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
homeostasis/metabolism
• mutants older than 6 months of age exhibit proteinuria (J:180407)

immune system
• elevation in serum IgA, both in young and old mutants (J:180407)
• B cells exhibit increased IgA production after stimulation with LPS, TGF-beta1, IL-4, and IL-5 (J:180407)
• reduced ratio of sialylated and galactosylated IgA in the serum, indicating that glycosylation of IgA is abnormal in mutants (J:180407)
• mutants exhibit higher titers of circulating IgA-containing complexes (J:180407)
• mutants exhibit increased glomerular IgA deposition in the kidneys (J:180407)
• mutants exhibit increased glomerular IgM and C3 complement deposition in the kidneys (J:180407)
• mutants develop proliferative glomerulonephritis similar to human IgA nephropathy (J:180407)

renal/urinary system
• mutants older than 6 months of age exhibit proteinuria (J:180407)
• mutants exhibit renal injury with increasing severity with advancing age (J:180407)
• mutants develop proliferative glomerulonephritis similar to human IgA nephropathy (J:180407)
• mutants older than 6 months of age exhibit hump-like mesangial and paramesangial deposits (J:180407)
• mutants older than 6 months of age, exhibit increased mesangial cellularity with or without endocapillary proliferation (J:180407)
• mutants older than 6 months of age, exhibit increased matrix deposition with or without endocapillary proliferation (J:180407)

hematopoietic system
• elevation in serum IgA, both in young and old mutants (J:180407)
• B cells exhibit increased IgA production after stimulation with LPS, TGF-beta1, IL-4, and IL-5 (J:180407)
• reduced ratio of sialylated and galactosylated IgA in the serum, indicating that glycosylation of IgA is abnormal in mutants (J:180407)
• mutants exhibit higher titers of circulating IgA-containing complexes (J:180407)
• mutants exhibit increased glomerular IgA deposition in the kidneys (J:180407)
• mutants exhibit increased glomerular IgM and C3 complement deposition in the kidneys (J:180407)


Mouse Genome Informatics
hm2
    Wastm1Sbs/Wastm1Sbs
either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * C57BL/6)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
N
• young mutant mice develop neither hematopoeitic malignancies nor eczema (J:48836)

digestive/alimentary system
• severely affected colons appear dilated with thickened walls (J:48836)
• the intestinal mucosa appears thickened with crypt hyperplasia and a mixed lymphocytic and neutrophilic infiltrate within the lamina propria (J:48836)
• mutants with severe colitis exhibit crypt abscesses (J:48836)
• most mutants develop chronic colitis by 4 months of age (J:48836)
• large numbers of CD4+ and CD8+ T cells (but not B220+ B cells) are scattered throughout the lamina propria in affected mutants (J:48836)

endocrine/exocrine glands
• severely affected colons appear dilated with thickened walls (J:48836)
• the intestinal mucosa appears thickened with crypt hyperplasia and a mixed lymphocytic and neutrophilic infiltrate within the lamina propria (J:48836)
• mutants with severe colitis exhibit crypt abscesses (J:48836)

hematopoietic system
• mutants show a significant reduction in the number of peripheral blood lymphocytes, despite normal lymphocyte numbers in the spleen and lymph nodes (J:48836)
• 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 (J:48836)
• in mutant mice, lymphopenia is associated with slightly increased numbers of neutrophils but normal numbers of red blood cells (J:48836)
• mutants display modestly reduced numbers of platelets relative to wild-type mice (J:48836)
• notably, decreased platelet count is not associated with reduced platelet size or bleeding (J:48836)
• in vitro, mutant T cells show defective proliferative responses and antigen receptor cap formation in reponse to anti-CD3epsilon mediated stimulation (J:48836)

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 (J:48836)
• most mutants develop chronic colitis by 4 months of age (J:48836)
• large numbers of CD4+ and CD8+ T cells (but not B220+ B cells) are scattered throughout the lamina propria in affected mutants (J:48836)
• mutants show a significant reduction in the number of peripheral blood lymphocytes, despite normal lymphocyte numbers in the spleen and lymph nodes (J:48836)
• 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 (J:48836)
• in mutant mice, lymphopenia is associated with slightly increased numbers of neutrophils but normal numbers of red blood cells (J:48836)
• in vitro, mutant T cells show defective proliferative responses and antigen receptor cap formation in reponse to anti-CD3epsilon mediated stimulation (J:48836)

Mouse Models of Human Disease
OMIM IDRef(s)
Wiskott-Aldrich Syndrome; WAS 301000 J:48836


Mouse Genome Informatics
hm3
    Wastm1Sbs/Wastm1Sbs
involves: 129S/SvEv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• when cultured on glass coverslips, 67.9% of bone marrow osteoclasts from mutant mice are devoid of podosomes, assembling actin plaques that colocalize with vinculin (J:90542)
• on glass coverslips, 30.3% also assemble abnormal actin rings that are depleted of actin and vinculin and contain few podosome-like structures in the ring (J:90542)
• when cultured on bone slices, 52.7% of mutant osteoclasts are completely devoid of podosomes and fail to form actin rings at sealing zones; 45.8% display only abnormal actin-rich plaques that are undetectable in wild-type cells (J:90542)
• mutant osteoclasts exhibit a 7.9%- and a 1.8%-fold increase in the area of spreading on glass and bone, respectively, relative to wild-type (J:90542)
• increased area of spreading is associated with a 5.7%- and a 1.7%-fold increase in the number of nuclei per cell on glass and bone, respectively (J:90542)
• mutant osteoclasts are overall larger than wild-type but, in contrast to wild-type, do not undergo any further increase when plated on bone (J:90542)
• in vitro, bone marrow cells from mutant mice show a 2-fold reduction in SDF-1-induced chemotaxis relative to wild-type cells (J:84888)

hematopoietic system
• when cultured on glass coverslips, 67.9% of bone marrow osteoclasts from mutant mice are devoid of podosomes, assembling actin plaques that colocalize with vinculin (J:90542)
• on glass coverslips, 30.3% also assemble abnormal actin rings that are depleted of actin and vinculin and contain few podosome-like structures in the ring (J:90542)
• when cultured on bone slices, 52.7% of mutant osteoclasts are completely devoid of podosomes and fail to form actin rings at sealing zones; 45.8% display only abnormal actin-rich plaques that are undetectable in wild-type cells (J:90542)
• mutant osteoclasts exhibit a 7.9%- and a 1.8%-fold increase in the area of spreading on glass and bone, respectively, relative to wild-type (J:90542)
• increased area of spreading is associated with a 5.7%- and a 1.7%-fold increase in the number of nuclei per cell on glass and bone, respectively (J:90542)
• mutant osteoclasts are overall larger than wild-type but, in contrast to wild-type, do not undergo any further increase when plated on bone (J:90542)
• mutant BMMC adhere to IgE-coated plates but are impaired in their ability to spread and form ruffles (J:86835)
• serial transplantation and competitive reconstitution expts show that marrow cells, including hematopoietic progenitors and stem cells (HSCs), from heterozgous carriers exhibit decreased migration and homing capacities relative to wild-type cells (J:84888)
• despite a normal marrow and spleen hematopoiesis, HSCs from mutant mice display a defect in their ability to colonize hematopoietic tissues associated with a defect in adhesion to collagen I (J:84888)
• HSCs expressing a normal gene appear to have a selective advantage over deficient cells in their capacity to migrate and home to the bone marrow (J:84888)
• authors propose that nonrandom X inactivation in heterozygous females is the consequence of a defect in the homing capacities of HSCs during fetal life (J:84888)
• after 4 weeks of culture in IL3, bone marrow-derived mast cells (BMMC) from mutant mice show similar kinetics of cell growth and differentiation as wild-type BMMC (J:86835)
• notably, the numbers of tissue mast cells in ears of mutant mice are comparable to those of wild-type (J:86835)
• in vivo, mutant BMMC display diminished IgE-mediated mast cell degranulation with a significantly reduced rise in plasma histamine levels relative to wild-type (J:86835)
• in vitro, mutant BMMC display reduced IgE-mediated mast cell degranulation with a significant reduction in beta-hexosaminidase release relative to wild-type after IgE cross-linking (J:86835)
• in addition, mutant BMMC show reduced Ca2+ mobilization and deficient JNK activation after IgE cross-linking (J:86835)
• following ovariectomy, mutants exhibit a non-significant 16.4% of bone loss relative to wild-type (38.6%) (J:90542)
• despite low levels of bone loss, ovariectomized mutants show a 2.75-fold increase in total eroded surface, as well as a 1.5- and a 1.7-fold increase in the % of bone surface covered by osteoclasts and the total number of osteoclasts, respectively; no such increases are detected in wild-type (J:90542)
• consistent with impaired bone resorption, mutant osteoclasts tend to form small excavations on bone slices in vitro (J:90542)

immune system
• when cultured on glass coverslips, 67.9% of bone marrow osteoclasts from mutant mice are devoid of podosomes, assembling actin plaques that colocalize with vinculin (J:90542)
• on glass coverslips, 30.3% also assemble abnormal actin rings that are depleted of actin and vinculin and contain few podosome-like structures in the ring (J:90542)
• when cultured on bone slices, 52.7% of mutant osteoclasts are completely devoid of podosomes and fail to form actin rings at sealing zones; 45.8% display only abnormal actin-rich plaques that are undetectable in wild-type cells (J:90542)
• mutant osteoclasts exhibit a 7.9%- and a 1.8%-fold increase in the area of spreading on glass and bone, respectively, relative to wild-type (J:90542)
• increased area of spreading is associated with a 5.7%- and a 1.7%-fold increase in the number of nuclei per cell on glass and bone, respectively (J:90542)
• mutant osteoclasts are overall larger than wild-type but, in contrast to wild-type, do not undergo any further increase when plated on bone (J:90542)
• mutant BMMC adhere to IgE-coated plates but are impaired in their ability to spread and form ruffles (J:86835)
• after 4 weeks of culture in IL3, bone marrow-derived mast cells (BMMC) from mutant mice show similar kinetics of cell growth and differentiation as wild-type BMMC (J:86835)
• notably, the numbers of tissue mast cells in ears of mutant mice are comparable to those of wild-type (J:86835)
• in vivo, mutant BMMC display diminished IgE-mediated mast cell degranulation with a significantly reduced rise in plasma histamine levels relative to wild-type (J:86835)
• in vitro, mutant BMMC display reduced IgE-mediated mast cell degranulation with a significant reduction in beta-hexosaminidase release relative to wild-type after IgE cross-linking (J:86835)
• in addition, mutant BMMC show reduced Ca2+ mobilization and deficient JNK activation after IgE cross-linking (J:86835)
• following ovariectomy, mutants exhibit a non-significant 16.4% of bone loss relative to wild-type (38.6%) (J:90542)
• despite low levels of bone loss, ovariectomized mutants show a 2.75-fold increase in total eroded surface, as well as a 1.5- and a 1.7-fold increase in the % of bone surface covered by osteoclasts and the total number of osteoclasts, respectively; no such increases are detected in wild-type (J:90542)
• consistent with impaired bone resorption, mutant osteoclasts tend to form small excavations on bone slices in vitro (J:90542)
• mutant BMMC secrete significantly less IL6 and TNF than wild-type BMMC at 6, 24 and 48 h after IgE cross-linking (J:86835)

skeleton
• when cultured on glass coverslips, 67.9% of bone marrow osteoclasts from mutant mice are devoid of podosomes, assembling actin plaques that colocalize with vinculin (J:90542)
• on glass coverslips, 30.3% also assemble abnormal actin rings that are depleted of actin and vinculin and contain few podosome-like structures in the ring (J:90542)
• when cultured on bone slices, 52.7% of mutant osteoclasts are completely devoid of podosomes and fail to form actin rings at sealing zones; 45.8% display only abnormal actin-rich plaques that are undetectable in wild-type cells (J:90542)
• mutant osteoclasts exhibit a 7.9%- and a 1.8%-fold increase in the area of spreading on glass and bone, respectively, relative to wild-type (J:90542)
• increased area of spreading is associated with a 5.7%- and a 1.7%-fold increase in the number of nuclei per cell on glass and bone, respectively (J:90542)
• mutant osteoclasts are overall larger than wild-type but, in contrast to wild-type, do not undergo any further increase when plated on bone (J:90542)
• following ovariectomy, mutants exhibit a non-significant 16.4% of bone loss relative to wild-type (38.6%) (J:90542)
• despite low levels of bone loss, ovariectomized mutants show a 2.75-fold increase in total eroded surface, as well as a 1.5- and a 1.7-fold increase in the % of bone surface covered by osteoclasts and the total number of osteoclasts, respectively; no such increases are detected in wild-type (J:90542)
• consistent with impaired bone resorption, mutant osteoclasts tend to form small excavations on bone slices in vitro (J:90542)


Mouse Genome Informatics
hm4
    Wastm1Sbs/Wastm1Sbs
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• bone marrow-derived dendritic cell podosome turnover is increased compared to in wild-type mice (J:153247)
• the proportion of mature marginal zone to marginal zone precursors and T2 cells is decreased compared to in wild-type mice (J:153247)
• mice exhibit an increase in B220+ B cells in the spleen compared with wild-type mice (J:153247)
• in the spleen (J:153247)
• mice have fewer CD4+ CD3+ and CD8+ CD3+ T cells than in wild-type mice (J:153247)
• fewer CD3+ T cells, especially CD8+CD3+ and CD4+CD8+Cd3+ T cells, are observed in the spleen, lymph nodes, and thymus than in wild-type mice (J:153247)
• unlike wild-type thymocytes, single positive (SP) thymocytes fail to proliferate after CD3 stimulation (J:125309)
• spreading of TCRhigh CD4 or CD8 SP thymocytes on a surface covered with antibodies to CD3 and CD28 is reduced compared to wild-type cells (J:125309)
• migratory responses to CCL19 or CXCL12 are reduced compared to in wild-type cells (J:125309)
• the ratio of double negative 3 (DN3) to DN4 is skewed (1.49+/-0.90 compared to 0.74+/-0.45 in wild-type mice) (J:125309)
• the percent of double positive (DP) CD69high cells is greater than in wild-type (J:125309)
• chemotaxis velocity bone marrow-derived dendritic cells in response to CCL3 is decreased compared to similarly treated wild-type cells (J:153247)
• migration of dendritic cells is impaired compared to wild-type cells (J:153247)
• dendritic cells fail to exhibit an increase in phagocytosis of latex beads unlike similarly treated wild-type cells (J:153247)

hematopoietic system
• bone marrow-derived dendritic cell podosome turnover is increased compared to in wild-type mice (J:153247)
• the proportion of mature marginal zone to marginal zone precursors and T2 cells is decreased compared to in wild-type mice (J:153247)
• mice exhibit an increase in B220+ B cells in the spleen compared with wild-type mice (J:153247)
• in the spleen (J:153247)
• mice have fewer CD4+ CD3+ and CD8+ CD3+ T cells than in wild-type mice (J:153247)
• fewer CD3+ T cells, especially CD8+CD3+ and CD4+CD8+Cd3+ T cells, are observed in the spleen, lymph nodes, and thymus than in wild-type mice (J:153247)
• unlike wild-type thymocytes, single positive (SP) thymocytes fail to proliferate after CD3 stimulation (J:125309)
• spreading of TCRhigh CD4 or CD8 SP thymocytes on a surface covered with antibodies to CD3 and CD28 is reduced compared to wild-type cells (J:125309)
• migratory responses to CCL19 or CXCL12 are reduced compared to in wild-type cells (J:125309)
• the ratio of double negative 3 (DN3) to DN4 is skewed (1.49+/-0.90 compared to 0.74+/-0.45 in wild-type mice) (J:125309)
• the percent of double positive (DP) CD69high cells is greater than in wild-type (J:125309)


Mouse Genome Informatics
hm5
    Wastm1Sbs/Wastm1Sbs
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• decrease in the percentage and absolute number of bone marrow B220 hi mature recirculating B cells (J:182528)
• decrease in the percentage and absolute number of marginal zone B cells (J:182528)
• the ring of B220+ CD1d+ MZ B cells that normally surrounds MOMA-expressing metallophilic macrophages is almost absent (J:182528)
• in the spleen and lymph nodes (J:182528)
• increase in the proportion of CD19+ CD138hi plasma cells (J:182528)
• virtual abrogation of IgM and IgG pneumococcus polysaccharide specific Ab responses (J:182528)
• abrogation of the early response to immunization with UV inactivated vesicular stomatitis virus (J:182528)
• elevated total serum levels and spontaneous production of IgM Abs specific for trinitrophenyl and phosphocholine (J:182528)

renal/urinary system
• modest degree of glomerular damage (J:182528)

hematopoietic system
• decrease in the percentage and absolute number of bone marrow B220 hi mature recirculating B cells (J:182528)
• decrease in the percentage and absolute number of marginal zone B cells (J:182528)
• the ring of B220+ CD1d+ MZ B cells that normally surrounds MOMA-expressing metallophilic macrophages is almost absent (J:182528)
• in the spleen and lymph nodes (J:182528)
• increase in the proportion of CD19+ CD138hi plasma cells (J:182528)
• megakaryocytes fail to form podosomes when spread on collagen (J:195436)
• megakaryocytes exhibit reduced crossing protrussions compared with wild-type cells (J:195436)
• however, megakaryocytes spread normally on both collagen and fibrinogen (J:195436)
• virtual abrogation of IgM and IgG pneumococcus polysaccharide specific Ab responses (J:182528)
• abrogation of the early response to immunization with UV inactivated vesicular stomatitis virus (J:182528)
• elevated total serum levels and spontaneous production of IgM Abs specific for trinitrophenyl and phosphocholine (J:182528)


Mouse Genome Informatics
hm6
    Wastm1Sbs/Wastm1Sbs
involves: BALB/c
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• in vitro, activated mutant B cells and DCs process and present soluble ovalbumin (whole OVA) or OVA 323-339 petides efficiently, with normal proliferative and cytokine responses in TCR tg CD4+ T cells (J:84131)
• notably, LPS-activated B cells, lacking microvilli, and (LPS+IL-4)-activated B cells, possessing many and long microvilli, exhibit a similar antigen processing and presenting capacity (J:84131)
• in vivo, immunization of mutant mice with OVA elicits proliferation of transferred, fluorescent-labelled, CD4+ T cells, confirming normal processing of soluble antigen and presentation on MHC class II molecules by APCs (J:84131)
• mutant DCs present bacterial-derived OVA peptides but the T cell response is less than 50% of wild-type DCs, suggesting impaired processing of particulate antigen in DCs (J:84131)
• DCs from mutant mice show impaired processing and presentation of particulate antigen (bacterial-expressed OVA) (J:84131)

hematopoietic system
• mutant DCs present bacterial-derived OVA peptides but the T cell response is less than 50% of wild-type DCs, suggesting impaired processing of particulate antigen in DCs (J:84131)


Mouse Genome Informatics
hm7
    Wastm1Sbs/Wastm1Sbs
involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• mutant B cells display notable defects in polarization, spreading, and microvilli formation in response to IL-4- and CD40-dependent stimuli relative to similarly-induced wild-type B cells; homotypic aggregation is only mildly impaired (J:95909)
• activated mutant B lymphocytes exhibit an abnormally smooth surface and express shorter microvilli that are less dense in cell contacts than in activated wild-type B cells (J:95909)

hematopoietic system
• mutant B cells display notable defects in polarization, spreading, and microvilli formation in response to IL-4- and CD40-dependent stimuli relative to similarly-induced wild-type B cells; homotypic aggregation is only mildly impaired (J:95909)
• activated mutant B lymphocytes exhibit an abnormally smooth surface and express shorter microvilli that are less dense in cell contacts than in activated wild-type B cells (J:95909)


Mouse Genome Informatics
cn8
    Wastm1Sbs/Wastm1Sbs
Wasltm2Sbs/Wasltm2Sbs
Tg(Lck-cre)1Cwi/?

involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• most mice develop signs of colitis by 2 months of age with elongation of crypts and mucosal thickening (J:125309)
• the numbers of CD4+ and CD8+ T lymphocytes is reduced (J:125309)
• mice have fewer single positive CD69hi cells compared to in wild-type mice and Wastm1Sbs homozygotes (J:125309)
• the number of thymocytes is reduced (J:125309)
• however, there is no increase in apoptosis (J:125309)
• the number of single positive CD69low CD62Llow cells is increased compared to in wild-type mice (J:125309)
• unlike wild-type thymocytes, single positive (SP) thymocytes fail to proliferate after CD3 stimulation (J:125309)
• spreading of TCRhigh CD4 or CD8 SP thymocytes on a surface covered with antibodies to CD3 and CD28 is reduced (J:125309)
• migratory responses to CCL19 or CXCL12 are reduced even more than in Wastm1Sbs homozygotes and compared to in wild-type cells (J:125309)
• mice exhibit a reduction in large and cycling double negative 3 (DN3) cells and, to a lesser degree, DN4 cells (J:125309)
• the ratio of DN3 to DN4 is skewed (3.18+/-1.89 compared to 0.74+/-0.45 in wild-type mice and 1.49+/-0.90 in Wastm1Sbs homozygotes) (J:125309)
• the percent of double positive (DP) CD69hi cells is greater than in wild-type (J:125309)

hematopoietic system
• the numbers of CD4+ and CD8+ T lymphocytes is reduced (J:125309)
• mice have fewer single positive CD69hi cells compared to in wild-type mice and Wastm1Sbs homozygotes (J:125309)
• the number of thymocytes is reduced (J:125309)
• however, there is no increase in apoptosis (J:125309)
• the number of single positive CD69low CD62Llow cells is increased compared to in wild-type mice (J:125309)
• unlike wild-type thymocytes, single positive (SP) thymocytes fail to proliferate after CD3 stimulation (J:125309)
• spreading of TCRhigh CD4 or CD8 SP thymocytes on a surface covered with antibodies to CD3 and CD28 is reduced (J:125309)
• migratory responses to CCL19 or CXCL12 are reduced even more than in Wastm1Sbs homozygotes and compared to in wild-type cells (J:125309)
• mice exhibit a reduction in large and cycling double negative 3 (DN3) cells and, to a lesser degree, DN4 cells (J:125309)
• the ratio of DN3 to DN4 is skewed (3.18+/-1.89 compared to 0.74+/-0.45 in wild-type mice and 1.49+/-0.90 in Wastm1Sbs homozygotes) (J:125309)
• the percent of double positive (DP) CD69hi cells is greater than in wild-type (J:125309)

digestive/alimentary system
• most mice develop signs of colitis by 2 months of age with elongation of crypts and mucosal thickening (J:125309)
• most mice develop signs of colitis by 2 months of age with elongation of crypts and mucosal thickening (J:125309)

endocrine/exocrine glands
• most mice develop signs of colitis by 2 months of age with elongation of crypts and mucosal thickening (J:125309)


Mouse Genome Informatics
cx9
    Cblbtm1Pngr/Cblbtm1Pngr
Vav1tm1Tyb/Vav1tm1Tyb
Wastm1Sbs/Wastm1Sbs

involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• introduction of the Cblbtm1Pngr mutation into a Wastm1Sbs/Vav1tm1Tyb double null background fails to restore T cell responses and receptor clustering, indicating that WAS protein is critical for deregulated proliferation and membrane receptor reorganization of Cblbtm1Pngr mutant T cells (J:79550)

hematopoietic system
• introduction of the Cblbtm1Pngr mutation into a Wastm1Sbs/Vav1tm1Tyb double null background fails to restore T cell responses and receptor clustering, indicating that WAS protein is critical for deregulated proliferation and membrane receptor reorganization of Cblbtm1Pngr mutant T cells (J:79550)


Mouse Genome Informatics
cx10
    Cblbtm1Pngr/Cblbtm1Pngr
Wastm1Sbs/Wastm1Sbs

Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• introduction of the Cblbtm1Pngr mutation into a Wastm1Sbs null background fails to restore T cell responses and receptor clustering, indicating that WAS protein is critical for deregulated proliferation and membrane receptor reorganization of Cblbtm1Pngr mutant T cells (J:79550)

hematopoietic system
• introduction of the Cblbtm1Pngr mutation into a Wastm1Sbs null background fails to restore T cell responses and receptor clustering, indicating that WAS protein is critical for deregulated proliferation and membrane receptor reorganization of Cblbtm1Pngr mutant T cells (J:79550)


Mouse Genome Informatics
ot11
    Wastm1Sbs/Y
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• bone marrow-derived dendritic cell podosome turnover is increased compared to in wild-type mice (J:153247)
• the proportion of mature marginal zone to marginal zone precursors and T2 cells is decreased compared to in wild-type mice (J:153247)
• mice exhibit an increase in B220+ B cells in the spleen compared with wild-type mice (J:153247)
• in the spleen (J:153247)
• mice have fewer CD4+ CD3+ and CD8+ CD3+ T cells than in wild-type mice (J:153247)
• fewer CD3+ T cells, especially CD8+CD3+ and CD4+CD8+Cd3+ T cells, are observed in the spleen, lymph nodes, and thymus than in wild-type mice (J:153247)
• chemotaxis velocity bone marrow-derived dendritic cells in response to CCL3 is decreased compared to similarly treated wild-type cells (J:153247)
• migration of dendritic cells is impaired compared to wild-type cells (J:153247)
• dendritic cells fail to exhibit an increase in phagocytosis of latex beads unlike similarly treated wild-type cells (J:153247)

hematopoietic system
• bone marrow-derived dendritic cell podosome turnover is increased compared to in wild-type mice (J:153247)
• the proportion of mature marginal zone to marginal zone precursors and T2 cells is decreased compared to in wild-type mice (J:153247)
• mice exhibit an increase in B220+ B cells in the spleen compared with wild-type mice (J:153247)
• in the spleen (J:153247)
• mice have fewer CD4+ CD3+ and CD8+ CD3+ T cells than in wild-type mice (J:153247)
• fewer CD3+ T cells, especially CD8+CD3+ and CD4+CD8+Cd3+ T cells, are observed in the spleen, lymph nodes, and thymus than in wild-type mice (J:153247)


Mouse Genome Informatics
ot12
    Wastm1Sbs/Y
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• decrease in the percentage and absolute number of bone marrow B220 hi mature recirculating B cells (J:182528)
• decrease in the percentage and absolute number of marginal zone B cells (J:182528)
• the ring of B220+ CD1d+ MZ B cells that normally surrounds MOMA-expressing metallophilic macrophages is almost absent (J:182528)
• in the spleen and lymph nodes (J:182528)
• increase in the proportion of CD19+ CD138hi plasma cells (J:182528)
• virtual abrogation of IgM and IgG pneumococcus polysaccharide specific Ab responses (J:182528)
• abrogation of the early response to immunization with UV inactivated vesicular stomatitis virus (J:182528)
• elevated total serum levels and spontaneous production of IgM Abs specific for trinitrophenyl and phosphocholine (J:182528)

renal/urinary system
• modest degree of glomerular damage (J:182528)

hematopoietic system
• decrease in the percentage and absolute number of bone marrow B220 hi mature recirculating B cells (J:182528)
• decrease in the percentage and absolute number of marginal zone B cells (J:182528)
• the ring of B220+ CD1d+ MZ B cells that normally surrounds MOMA-expressing metallophilic macrophages is almost absent (J:182528)
• in the spleen and lymph nodes (J:182528)
• increase in the proportion of CD19+ CD138hi plasma cells (J:182528)
• virtual abrogation of IgM and IgG pneumococcus polysaccharide specific Ab responses (J:182528)
• abrogation of the early response to immunization with UV inactivated vesicular stomatitis virus (J:182528)
• elevated total serum levels and spontaneous production of IgM Abs specific for trinitrophenyl and phosphocholine (J:182528)