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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nfkb2Lym1
Lym1
MGI:4412046
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nfkb2Lym1/Nfkb2Lym1 involves: BALB/c MGI:4412050
ht2
Nfkb2Lym1/Nfkb2+ BALB/c-Nfkb2Lym1 MGI:4412047
ht3
Nfkb2Lym1/Nfkb2+ involves: BALB/c MGI:5446430
cn4
Nfkb2Lym1/Nfkb2+
Otub1tm1c(EUCOMM)Hmgu/Otub1tm1c(EUCOMM)Hmgu
Cd19tm1(cre)Cgn/Cd19+
involves: 129P2/OlaHsd * BALB/c * C57BL/6 * C57BL/6N MGI:6387024


Genotype
MGI:4412050
hm1
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




Genotype
MGI:4412047
ht2
Allelic
Composition
Nfkb2Lym1/Nfkb2+
Genetic
Background
BALB/c-Nfkb2Lym1
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
hematopoietic system
• increased number of circulating lymphocytes
• abnormalities in splenic architecture in heterozygous mice are intermediate between that of wild-type and homozygous null mice

immune system
• increased number of circulating lymphocytes
• abnormalities in splenic architecture in heterozygous mice are intermediate between that of wild-type and homozygous null mice
• mesenteric lymph nodes are present, but are reduced in size and cellularity
• small foci composed of T and B cells, and macrophages are present in the liver of heterozygous mice
• small foci composed of T and B cells, and macrophages are present in the lung of heterozygous mice

liver/biliary system
• small foci composed of T and B cells, and macrophages are present in the liver of heterozygous mice

respiratory system
• small foci composed of T and B cells, and macrophages are present in the lung of heterozygous mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
common variable immunodeficiency DOID:12177 OMIM:PS607594
J:206674




Genotype
MGI:5446430
ht3
Allelic
Composition
Nfkb2Lym1/Nfkb2+
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
immune system
• defect in the production of IgA+ B cells in response to anti-CD40 and BAFF

hematopoietic system
• defect in the production of IgA+ B cells in response to anti-CD40 and BAFF




Genotype
MGI:6387024
cn4
Allelic
Composition
Nfkb2Lym1/Nfkb2+
Otub1tm1c(EUCOMM)Hmgu/Otub1tm1c(EUCOMM)Hmgu
Cd19tm1(cre)Cgn/Cd19+
Genetic
Background
involves: 129P2/OlaHsd * BALB/c * C57BL/6 * C57BL/6N
Cell Lines HEPD0539_8_A05
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd19tm1(cre)Cgn mutation (11 available); any Cd19 mutation (60 available)
Nfkb2Lym1 mutation (2 available); any Nfkb2 mutation (49 available)
Otub1tm1c(EUCOMM)Hmgu mutation (0 available); any Otub1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• mice show rescue of the defect in peripheral B cells, with an increase in total peripheral B cells, mature B cells, and follicular and MZ B cells





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory