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Phenotypes Associated with This Genotype
Genotype
MGI:5576251
Allelic
Composition
Nfil3tm1Pbro/Nfil3tm1Pbro
Genetic
Background
B6.129S6-Nfil3tm1Pbro
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfil3tm1Pbro mutation (0 available); any Nfil3 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mice develop spontaneous chronic colitis that is Th1/Th7 mediated; colitis is variable and shows incomplete penetrance
• mice derived in a germ-free environment do not exhibit colitis at 6 months of age, however, upon transition from germ-free to conventional housing, mutants develop colitis, indicating that colitis development is dependent on the enteric microbiota
• inflammation is characterized by multifocal aggregates of inflammatory cells in the mucosa and extends transmurally to the submucosa
• inflammation in the lamina propria is occasionally organized into de novo lymphoid follicles and multinucleated giant cells are detected
• CD3+, B220+, and F4/80+ cells are increased in inflamed colonic lamina propria, with the most increase in F4/80+ cells
• decrease in lymphoid tissue inducer cells; RORgammat+ and RORgammat-CD3-NKp46+ colonic lamina propria innate lymphoid cell populations are decreased
• CD4+ and CD4- populations are decreased among CD3-NKp46-RORgammat+ lymphoid tissue inducer cells
• decrease in colonic NK cells; the lamina propria CD3-NK1.1+ NK cell population is decreased
• however, the CD3+NK1.1+ NKT cell numbers are normal
• IFN-gamma and IL-17A-producing CD4+ T cells are increased in mutants
• B220+ plasma cells are localized inside and outside of secondary lymphoid follicles instead of within lymphoid structures as in wild-type mice
• colonic macrophages are the main source of inflammatory cytokines
• serum IL-17A is increased
• serum TNF-alpha is increased
• colonic tissue explants secrete elevated levels of proinflammatory cytokines
• colonic tissue explants secrete elevated levels of INF-gamma
• colonic tissue explants secrete elevated levels of Il-10
• colonic tissue explants secrete elevated levels of IL-12b (IL-12p40)
• colonic tissue explants secrete elevated levels of IL-17A
• colonic tissue explants secrete elevated levels of TNF-alpha

digestive/alimentary system
• areas of ulceration
• colons from 12 week old mutants are thickened and foreshortened, with lack of formed fetal pellets
• elongation of colonic crypts
• decrease in goblet cells in the colon
• about 12%, 20 and 50% of mutants develop rectal prolapse by 16, 20 and 36 weeks of age, respectively
• mice develop spontaneous chronic colitis that is Th1/Th7 mediated; colitis is variable and shows incomplete penetrance
• mice derived in a germ-free environment do not exhibit colitis at 6 months of age, however, upon transition from germ-free to conventional housing, mutants develop colitis, indicating that colitis development is dependent on the enteric microbiota
• inflammation is characterized by multifocal aggregates of inflammatory cells in the mucosa and extends transmurally to the submucosa
• inflammation in the lamina propria is occasionally organized into de novo lymphoid follicles and multinucleated giant cells are detected
• CD3+, B220+, and F4/80+ cells are increased in inflamed colonic lamina propria, with the most increase in F4/80+ cells

hematopoietic system
• decrease in lymphoid tissue inducer cells; RORgammat+ and RORgammat-CD3-NKp46+ colonic lamina propria innate lymphoid cell populations are decreased
• CD4+ and CD4- populations are decreased among CD3-NKp46-RORgammat+ lymphoid tissue inducer cells
• decrease in colonic NK cells; the lamina propria CD3-NK1.1+ NK cell population is decreased
• however, the CD3+NK1.1+ NKT cell numbers are normal
• IFN-gamma and IL-17A-producing CD4+ T cells are increased in mutants
• B220+ plasma cells are localized inside and outside of secondary lymphoid follicles instead of within lymphoid structures as in wild-type mice
• colonic macrophages are the main source of inflammatory cytokines

homeostasis/metabolism
• serum IL-17A is increased
• serum TNF-alpha is increased

endocrine/exocrine glands
• decrease in goblet cells in the colon

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
inflammatory bowel disease DOID:0050589 OMIM:PS266600
J:209365


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory