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Phenotypes Associated with This Genotype
Genotype
MGI:3819765
Allelic
Composition
Nfkbiztm1Aki/Nfkbiztm1Aki
Genetic
Background
C.129P2-Nfkbiztm1Aki
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
mortality/aging
• Background Sensitivity: 70% of mice die in utero, which is more than on a mixed 129P2/OlaHsd C57BL/6 mixed background

vision/eye
• inflammation of the ocular surfaces is accompanied by eye lid swelling, alopecia and abnormal hair growth around the eye
• at 4 to 6 weeks of age, mice develop inflammation of the eye lids
• many CD4+ cells, some CD8+ cells and few CD45R/B220+ cells infiltrate the skin of the eyelids
• 2 weeks after the onset of symptoms, mice exhibit infiltration of the submucosal area of the conjunctiva with inflammatory cells
• inflammatory cells in the conjunctival tissue are CD4+ and CD45%/B220+ while CD8+ cells are only detected in the conjunctival epithelium
• 2 weeks after the onset of symptoms, mice exhibit severe decrease in the number of goblet cells in the conjunctival epithelia

immune system
• 10 weeks after the onset of symptoms, IgE levels are higher than in wild-type mice
• however, IgE levels prior to 10 weeks after the onset of symptoms is normal
• inflammation of the ocular surfaces is accompanied by eye lid swelling, alopecia and abnormal hair growth around the eye
• at 4 to 6 weeks of age, mice develop inflammation of the eye lids
• many CD4+ cells, some CD8+ cells and few CD45R/B220+ cells infiltrate the skin of the eyelids
• 2 weeks after the onset of symptoms, mice exhibit infiltration of the submucosal area of the conjunctiva with inflammatory cells
• inflammatory cells in the conjunctival tissue are CD4+ and CD45%/B220+ while CD8+ cells are only detected in the conjunctival epithelium
• at 6 weeks of age, mice exhibit heavy infiltrate of inflammatory cells into the dermis
• mice develop progressive dermatitis that lichenifies
• at 9 weeks of age, mice exhibit inflammation of the perioral skin
• perioral inflammation is accompanied by erythema with excoriation and partial hair loss
• CD4+ and CD8+ cells infiltrate the dermis and epidermis around the mouth while many CD4+ cells, some CD8+ cells and few CD45R/B220+ cells infiltrate the skin of the eyelids
• however, dorsal and abdominal skin does not develop inflammation

homeostasis/metabolism
• at 6 weeks of age, mice exhibit inter- and intracellular edema of the epidermis around the mouth and eyes

integument
• at 6 weeks of age, mice exhibit inter- and intracellular edema of the epidermis around the mouth and eyes
• at 6 weeks of age, mice exhibit heavy infiltrate of inflammatory cells into the dermis
• mice develop progressive dermatitis that lichenifies
• at 9 weeks of age, mice exhibit inflammation of the perioral skin
• perioral inflammation is accompanied by erythema with excoriation and partial hair loss
• CD4+ and CD8+ cells infiltrate the dermis and epidermis around the mouth while many CD4+ cells, some CD8+ cells and few CD45R/B220+ cells infiltrate the skin of the eyelids
• however, dorsal and abdominal skin does not develop inflammation
• eye inflammation is accompanied by abnormal hair growth around the eyes
• eye and perioral inflammation is accompanied by loss of hair around the sites of inflammation
• at 6 weeks of age, mice exhibit spongiosis in the epidermis around the mouth and eyes
• at 6 weeks of age, mice exhibit epidermal hyperplasia around the mouth and eyes
• perioral inflammation is accompanied by erythema with excoriation

hematopoietic system
• 10 weeks after the onset of symptoms, IgE levels are higher than in wild-type mice
• however, IgE levels prior to 10 weeks after the onset of symptoms is normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Stevens-Johnson syndrome DOID:0050426 J:141704


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
10/29/2024
MGI 6.24
The Jackson Laboratory