mortality/aging
immune system
• osteoclasts formation in response to RANKL stimulation is reduced
|
• proliferation in response to CD40L, LPS, or BCR ligation is significantly reduced
|
• double positive, double negative, and CD4 single positive cells are significantly increased in number while the number of CD8 positive cells is unchanged
|
• thymus is enlarged in young homozygous null mice compared with wild-type
• with age the thymus becomes smaller in size and cellularity compared with age-matched wild-type
|
• an increased proportion of the CD4 single positive cells had the appearance of recent thymic emigrants (CD69-, CD62L+), suggesting that thymic export may be impaired
|
• does not correlate with an increase in splenocyte number
• enlargement becomes more pronounced with age
|
• isotype switching in vitro in response to CD40L, LPS, or BCR ligation is reduced
|
• number of transitional stage 2 B cells is profoundly reduced
|
• number of transitional stage 1 B cells is significantly increased
|
• plasma cell differentiation in vitro in response to CD40L, LPS, or BCR ligation is reduced
|
• a slight reduction in expression of CD44 suggests that T cells are more naive
|
• mature recirculating B cells are significantly reduced in the bone marrow
|
• profoundly reduced
|
• in the thymus and blood
|
• in the blood
• but not in the thymus
|
• absence of the ring of marginal metallophillic macrophages that normally surrounds the marginal zone
|
• profoundly reduced
|
• the number of follicular dendritic cell clusters is severely reduced
|
• B cells are not segregated into discrete compartments
|
• T cells are not segregated into discrete compartments
|
• expression analysis indicates that inflammation in the lung and liver is due to an autoimmune process
|
• large foci composed of T and B cells, and macrophages are present in the liver of homozygous null mice
• progressive increase in inflammation with age
|
• large foci composed of T and B cells, and macrophages are present in the lung of homozygous null mice
• progressive increase in inflammation with age
|
reproductive system
• reduced fertility with less frequent litters and smaller litter sizes
|
liver/biliary system
• large foci composed of T and B cells, and macrophages are present in the liver of homozygous null mice
• progressive increase in inflammation with age
|
respiratory system
• large foci composed of T and B cells, and macrophages are present in the lung of homozygous null mice
• progressive increase in inflammation with age
|
skeleton
• osteoclasts formation in response to RANKL stimulation is reduced
|
• significantly increased trabecular bone volume and number, but no change in trabecular thickness
|
• mild
|
hematopoietic system
N |
• the proportion and number of pro-B, pre-B, and immature B cells in the bone marrow are unchanged, suggesting that early B cell development is normal
|
• osteoclasts formation in response to RANKL stimulation is reduced
|
• proliferation in response to CD40L, LPS, or BCR ligation is significantly reduced
|
• double positive, double negative, and CD4 single positive cells are significantly increased in number while the number of CD8 positive cells is unchanged
|
• thymus is enlarged in young homozygous null mice compared with wild-type
• with age the thymus becomes smaller in size and cellularity compared with age-matched wild-type
|
• an increased proportion of the CD4 single positive cells had the appearance of recent thymic emigrants (CD69-, CD62L+), suggesting that thymic export may be impaired
|
• does not correlate with an increase in splenocyte number
• enlargement becomes more pronounced with age
|
• isotype switching in vitro in response to CD40L, LPS, or BCR ligation is reduced
|
• number of transitional stage 2 B cells is profoundly reduced
|
• number of transitional stage 1 B cells is significantly increased
|
• plasma cell differentiation in vitro in response to CD40L, LPS, or BCR ligation is reduced
|
• a slight reduction in expression of CD44 suggests that T cells are more naive
|
• increase in erythropoiesis in the spleen
|
• mature recirculating B cells are significantly reduced in the bone marrow
|
• profoundly reduced
|
• in the thymus and blood
|
• in the blood
• but not in the thymus
|
• absence of the ring of marginal metallophillic macrophages that normally surrounds the marginal zone
|
• profoundly reduced
|
• the number of follicular dendritic cell clusters is severely reduced
|
• B cells are not segregated into discrete compartments
|
• T cells are not segregated into discrete compartments
|
cellular
• osteoclasts formation in response to RANKL stimulation is reduced
|
• proliferation in response to CD40L, LPS, or BCR ligation is significantly reduced
|
endocrine/exocrine glands
• double positive, double negative, and CD4 single positive cells are significantly increased in number while the number of CD8 positive cells is unchanged
|
• thymus is enlarged in young homozygous null mice compared with wild-type
• with age the thymus becomes smaller in size and cellularity compared with age-matched wild-type
|
• an increased proportion of the CD4 single positive cells had the appearance of recent thymic emigrants (CD69-, CD62L+), suggesting that thymic export may be impaired
|
growth/size/body
• does not correlate with an increase in splenocyte number
• enlargement becomes more pronounced with age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
common variable immunodeficiency | DOID:12177 |
OMIM:PS607594 |
J:206674 |