hematopoietic system
• significant splenomegaly at 15 weeks of age with 1.5 to 2-fold more splenocytes than in heterozygotes, and the degree of splenomegaly is inversely proportional to body weight
|
• approximately 1.5 to 2-fold more splenocytes in homozygotes than heterozygotes
|
• increased CD69+ T cells indicative of an activation
|
• females, not males, were assessed and found to have remarkable spontaneous formation of germinal centres in the spleen and lymphoid organs
|
• hypergammaglobulinemia at 14 to 15 weeks of age inlcuding significant increases in IgM, IgG2b, IgG3, IgA, and IgE
|
mortality/aging
N |
• normal lifespan
|
renal/urinary system
• PAS-positive depositions and IgG and C3 deposits are found in the glomeruli of homozygotes but not heterozygotes although urine protein adjusted for cratinine is not significantly elevated
|
integument
sparse hair
(
J:171492
)
• the coat grows in sparsely and a sparse coat persists throughout the lifespan, which is normal
|
growth/size/body
• smaller than normal body size is evident before the hair begins to grow in
|
• evident by 1 week of age and worsens with age
|
• significant splenomegaly at 15 weeks of age with 1.5 to 2-fold more splenocytes than in heterozygotes, and the degree of splenomegaly is inversely proportional to body weight
|
• approximately 1.5 to 2-fold more splenocytes in homozygotes than heterozygotes
|
immune system
• significant splenomegaly at 15 weeks of age with 1.5 to 2-fold more splenocytes than in heterozygotes, and the degree of splenomegaly is inversely proportional to body weight
|
• approximately 1.5 to 2-fold more splenocytes in homozygotes than heterozygotes
|
• increased CD69+ T cells indicative of an activation
|
• females, not males, were assessed and found to have remarkable spontaneous formation of germinal centres in the spleen and lymphoid organs
|
• hypergammaglobulinemia at 14 to 15 weeks of age inlcuding significant increases in IgM, IgG2b, IgG3, IgA, and IgE
|
• significant lymphadenopathy at 15 weeks of age compared with heterozygotes, and the degree of lymphadenopathy is inversly proportional to body weight
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
systemic lupus erythematosus | DOID:9074 |
OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 |
J:278304 |