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Phenotypes Associated with This Genotype
Genotype
MGI:3047105
Allelic
Composition
Nfkbiztm1Aki/Nfkbiztm1Aki
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfkbiztm1Aki mutation (0 available); any Nfkbiz mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• increased numbers of T and B cells
• Th1 response in spleen and cervical lymph nodes indicated by IFN gamma and IL17 staining
• eventually develop splenomegaly
• memory or activated T cells increase in cervical lymph nodes
• eventually develop lymphadenopathy
• extra orbital lacrimal glands are inflamed
• periductal infiltration of CD4+ T cells and B cells
• splenocytes show a defective proliferative response to lipopolysaccharide but not to CD40, Il4 or anti-IgM
• elevated serum immune globulins
• high titers of antinuclear antibodies
• in vivo production of Il12 impaired
• impaired production in macrophages but in vivo levels near normal
• prolonged TNF alpha production
• at 12 weeks of age mice develop spontaneous inflammation of the ocular surface unlike in wild-type mice
• at 4 weeks of age, mice exhibit infiltration of inflammatory cells into the conjunctival epithelia
• at 14 weeks of age, mice exhibit heavy inflammatory cell infiltration in the submucosal areas of the conjunctiva
• at 14 weeks of age, mice exhibit moderate infiltration of the corneal limbus
• often present in aged mice
• atopic dermatitis-like skin lesions in some mice at 4-5 weeks of age, in all mice by 10 weeks (J:91297)
• mostly in the periocular region initially (J:194832)
• eventually spreads over the whole face with skin erosion and hair loss (J:194832)
• dermatitis mostly in the periocular region initially

vision/eye
• increased apoptosis
• swelling as early as 2 weeks of age
• inflammatory effects in all mice by 8 weeks
• extra orbital lacrimal glands are inflamed
• periductal infiltration of CD4+ T cells and B cells
• at 12 weeks of age mice develop spontaneous inflammation of the ocular surface unlike in wild-type mice
• at 4 weeks of age, mice exhibit infiltration of inflammatory cells into the conjunctival epithelia
• at 14 weeks of age, mice exhibit heavy inflammatory cell infiltration in the submucosal areas of the conjunctiva
• at 14 weeks of age, mice exhibit moderate infiltration of the corneal limbus
• lymphocyte infiltration and loss of goblet cells in the submucosa of the conjunctival epithelium
• at 4 weeks, mild loss of goblet cells is observed in the conjunctival epithelia
• at 14 weeks, mice exhibit degeneration and loss of goblet cells in the conjunctival epithelia of both the palpebral and bulbar conjunctiva
• reduced tear secretion

integument
• atopic dermatitis-like skin lesions in some mice at 4-5 weeks of age, in all mice by 10 weeks (J:91297)
• mostly in the periocular region initially (J:194832)
• eventually spreads over the whole face with skin erosion and hair loss (J:194832)
• dermatitis mostly in the periocular region initially
• some mice develop dermatitis-like skin lesions

homeostasis/metabolism
• swelling as early as 2 weeks of age
• inflammatory effects in all mice by 8 weeks

endocrine/exocrine glands
• increased apoptosis
• extra orbital lacrimal glands are inflamed
• periductal infiltration of CD4+ T cells and B cells

hematopoietic system
• eventually develop splenomegaly
• increased numbers of T and B cells
• Th1 response in spleen and cervical lymph nodes indicated by IFN gamma and IL17 staining
• splenocytes show a defective proliferative response to lipopolysaccharide but not to CD40, Il4 or anti-IgM
• elevated serum immune globulins
• high titers of antinuclear antibodies

respiratory system
• often present in aged mice

cellular
• increased apoptosis

growth/size/body
• swelling as early as 2 weeks of age
• inflammatory effects in all mice by 8 weeks
• eventually develop splenomegaly

craniofacial
• swelling as early as 2 weeks of age
• inflammatory effects in all mice by 8 weeks

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Stevens-Johnson syndrome DOID:0050426 J:96363


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