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Phenotypes Associated with This Genotype
Genotype
MGI:4412050
Allelic
Composition
Nfkb2Lym1/Nfkb2Lym1
Genetic
Background
involves: BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfkb2Lym1 mutation (2 available); any Nfkb2 mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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 blood
• but not in the thymus
• absence of the ring of marginal metallophillic macrophages that normally surrounds the marginal zone
• 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 blood
• but not in the thymus
• absence of the ring of marginal metallophillic macrophages that normally surrounds the marginal zone
• 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


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
11/12/2024
MGI 6.24
The Jackson Laboratory