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Phenotypes Associated with This Genotype
Genotype
MGI:3852643
Allelic
Composition
Nfkb1tm1Bal/Nfkb1tm1Bal
Nfkb2tm1Sbn/Nfkb2tm1Sbn
Genetic
Background
involves: 129P2/OlaHsd * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfkb1tm1Bal mutation (3 available); any Nfkb1 mutation (102 available)
Nfkb2tm1Sbn mutation (0 available); any Nfkb2 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die between 3 and 4 weeks

immune system
• osteoclast differentiation is halted prior to TRAP expression
• B cell developmental block occurs at the immature IgM stage
• the block in B cell development is maintained when cells are adoptively transferred into in Rag1 null mice
• mice exhibit a higher proportional of granulocytes in the spleen compared to in wild-type mice due to a decrease in other cell types
• however, bone marrow granulocyte numbers are normal
• fewer M342+ interdigitating dendritic cells are present and are disorganized compared to in wild-type mice
• thymic medullary dendritic cells are reduced in number and disorganized compared to in wild-type mice
• B220+ B cells in the spleen are decreased 1.3- to 2.6-fold compared to in wild-type mice
• IgM+ B cells are reduced and IgD+ cells are undetected unlike in wild-type mice
• no T cells are detected in the spleen
• reduction in dull staining double positive T cells
• single positive T cells are low in the thymus and undetected in the periphery unlike in wild-type mice
• however, single T cells are produced when transferred into Rag1 null mice
• no TRAP+ osteoclasts are detected unlike in wild-type mice
• however, no abnormal apoptosis of osteoclasts is detected
• mice exhibit a higher proportional of macrophages in the spleen compared to in wild-type mice due to a decrease in other cell types
• however, bone marrow macrophage numbers are normal
• mature macrophage functions are impaired
• thymic cortical epithelial cells are randomly distributed unlike in wild-type mice
• medullary epithelial cells are absent
• 10- to 30-fold fewer cells
• B220+ B cells are diffusely distributed throughout the spleen with only a few rare T cells and macrophages present throughout the spleen unlike in wild-type mice

skeleton
• osteoclast differentiation is halted prior to TRAP expression
• incisors fail to erupt
• however, adoptive transfer with wild-type liver cells restores tooth eruption by 5 weeks
• no TRAP+ osteoclasts are detected unlike in wild-type mice
• however, no abnormal apoptosis of osteoclasts is detected
• long bones are shortened, radio-opaque, and lack proper bone marrow cavities unlike in wild-type mice
• long bones lack proper bone marrow cavities
• at 2 to 4 weeks, mice develop osteopetrosis
• however, adoptive transfer with wild-type bone marrow cells rescues osteopetrosis

growth/size/body
• incisors fail to erupt
• however, adoptive transfer with wild-type liver cells restores tooth eruption by 5 weeks
• within a week of birth

craniofacial
• incisors fail to erupt
• however, adoptive transfer with wild-type liver cells restores tooth eruption by 5 weeks

hematopoietic system
• osteoclast differentiation is halted prior to TRAP expression
• thymic cortical epithelial cells are randomly distributed unlike in wild-type mice
• medullary epithelial cells are absent
• 10- to 30-fold fewer cells
• B cell developmental block occurs at the immature IgM stage
• the block in B cell development is maintained when cells are adoptively transferred into in Rag1 null mice
• mice exhibit a higher proportional of granulocytes in the spleen compared to in wild-type mice due to a decrease in other cell types
• however, bone marrow granulocyte numbers are normal
• fewer M342+ interdigitating dendritic cells are present and are disorganized compared to in wild-type mice
• thymic medullary dendritic cells are reduced in number and disorganized compared to in wild-type mice
• B220+ B cells in the spleen are decreased 1.3- to 2.6-fold compared to in wild-type mice
• IgM+ B cells are reduced and IgD+ cells are undetected unlike in wild-type mice
• no T cells are detected in the spleen
• reduction in dull staining double positive T cells
• single positive T cells are low in the thymus and undetected in the periphery unlike in wild-type mice
• however, single T cells are produced when transferred into Rag1 null mice
• no TRAP+ osteoclasts are detected unlike in wild-type mice
• however, no abnormal apoptosis of osteoclasts is detected
• mice exhibit a higher proportional of macrophages in the spleen compared to in wild-type mice due to a decrease in other cell types
• however, bone marrow macrophage numbers are normal
• B220+ B cells are diffusely distributed throughout the spleen with only a few rare T cells and macrophages present throughout the spleen unlike in wild-type mice
• mature macrophage functions are impaired

cellular
• osteoclast differentiation is halted prior to TRAP expression

endocrine/exocrine glands
• thymic cortical epithelial cells are randomly distributed unlike in wild-type mice
• medullary epithelial cells are absent
• 10- to 30-fold fewer cells


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
12/17/2024
MGI 6.24
The Jackson Laboratory