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Phenotypes Associated with This Genotype
Genotype
MGI:3793701
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Genetic
Background
NOD.129S2(B6)-Airetm1.1Doi/Doi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (52 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: 79% of mice die between 6 and 14 weeks of age with the likely cause of death being inflammatory lesions of the lungs with generalized pneumoitis
• Background Sensitivity: over 95% of the mice die by 20 weeks of age

growth/size/body
• Background Sensitivity: mice are prone to losing weight between 5 and 15 weeks of age with weight loss correlating to the intensity of pancreas or lung inflammation

immune system
• Background Sensitivity: sialitis is observed in all mice by 20 weeks of age which is a much higher incidence than what is observed when the mutant allele is on the C57BL/6 or BALB/c backgrounds
• Background Sensitivity: gastritis occurs in 87% of mice by 20 weeks of age but is rarely observed when the mutant allele is on C57BL/6
• Background Sensitivity: inflammation of the thyroid occurs in 54% of mice on the NOD background but is not observed in when the mutant allele is present on C57BL/6, BALB/c, or SJL backgrounds
• Background Sensitivity: all mice have inflammation of the prostate by 20 weeks of age
• Background Sensitivity: all mice exhibit inflammation of the pancreas on this background while no inflammation is observed in C57BL/6 or BALB/c mice carrying this mutant allele
• Background Sensitivity: the lesions are highly localized within the pancreas and appear to progress from an initial extravasation into the perivascular connective tissue to a front of cell destruction that moves through the exocrine lobe
• Background Sensitivity: islet cells are spared from destruction and the mice remain normoglycemic through 20 weeks of age
• Background Sensitivity: 88% of mice exhibit inflammation of the ovaries on this background while no inflammation is observed in C57BL/6 mice carrying the mutant allele
• Background Sensitivity: mice generate autoantibodies with a reactivity that mirror the histopathology associated with this mouse strain
• Background Sensitivity: the autoantibodies generated on the NOD background target numerous tissues including the pancreas
• Background Sensitivity: the pancreas is not targeted by autoantibodies when the mutant allele is present on other genetic backgrounds
• Background Sensitivity: cornea inflammation occurs in 14% of mice of this background by 20 weeks of age but is not observed when the mutant allele is when the mutant allele is on the SJL or C57BL/6 background
• Background Sensitivity: liver inflammation is observed in 86% of mice by 20 weeks of age while no inflammation is present when the mutant allele is on the C57BL/6 background
• Background Sensitivity: lung inflammation is observed in 100% of mice by 20 weeks of age which is a much higher incidence than observed when the mutant allele is on the C57BL/6 background
• Background Sensitivity: lesions of the lung are severe enough to likely cause the runting and premature death associated with this strain

vision/eye
• Background Sensitivity: cornea inflammation occurs in 14% of mice of this background by 20 weeks of age but is not observed when the mutant allele is when the mutant allele is on the SJL or C57BL/6 background
• Background Sensitivity: retinal degeneration resulting from autoimmune disease occurs by 20 weeks of age in 93% of mice

endocrine/exocrine glands
• Background Sensitivity: sialitis is observed in all mice by 20 weeks of age which is a much higher incidence than what is observed when the mutant allele is on the C57BL/6 or BALB/c backgrounds
• Background Sensitivity: inflammation of the thyroid occurs in 54% of mice on the NOD background but is not observed in when the mutant allele is present on C57BL/6, BALB/c, or SJL backgrounds
• Background Sensitivity: all mice have inflammation of the prostate by 20 weeks of age
• Background Sensitivity: all mice exhibit inflammation of the pancreas on this background while no inflammation is observed in C57BL/6 or BALB/c mice carrying this mutant allele
• Background Sensitivity: the lesions are highly localized within the pancreas and appear to progress from an initial extravasation into the perivascular connective tissue to a front of cell destruction that moves through the exocrine lobe
• Background Sensitivity: islet cells are spared from destruction and the mice remain normoglycemic through 20 weeks of age
• Background Sensitivity: 88% of mice exhibit inflammation of the ovaries on this background while no inflammation is observed in C57BL/6 mice carrying the mutant allele

liver/biliary system
• Background Sensitivity: liver inflammation is observed in 86% of mice by 20 weeks of age while no inflammation is present when the mutant allele is on the C57BL/6 background

reproductive system
• Background Sensitivity: all mice have inflammation of the prostate by 20 weeks of age
• Background Sensitivity: 88% of mice exhibit inflammation of the ovaries on this background while no inflammation is observed in C57BL/6 mice carrying the mutant allele

respiratory system
• Background Sensitivity: lung inflammation is observed in 100% of mice by 20 weeks of age which is a much higher incidence than observed when the mutant allele is on the C57BL/6 background
• Background Sensitivity: lesions of the lung are severe enough to likely cause the runting and premature death associated with this strain

digestive/alimentary system
• Background Sensitivity: sialitis is observed in all mice by 20 weeks of age which is a much higher incidence than what is observed when the mutant allele is on the C57BL/6 or BALB/c backgrounds
• Background Sensitivity: gastritis occurs in 87% of mice by 20 weeks of age but is rarely observed when the mutant allele is on C57BL/6

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autoimmune polyendocrine syndrome type 1 DOID:0050167 OMIM:240300
J:107432


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