Phenotypes Associated with This Genotype

Genotype
MGI:3793703

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi
• Genetic Background: SJL.129S2-Aire^tm1.1Doi/Doi

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

salivary gland inflammation ( J:107432 )

• 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

stomach inflammation ( J:107432 )

• Background Sensitivity: gastritis occurs in all mice by 20 weeks of age but is rarely observed when the mutant allele is on the C57BL/6 background

prostate gland inflammation ( J:107432 )

♂ • all mice have inflammation of the prostate by 20 weeks of age

pancreas inflammation ( J:107432 )

• 71% of 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

ovary inflammation ( J:107432 )

♀ • Background Sensitivity: 50% of mice exhibit inflammation of the ovaries on this background while no inflammation is observed in C57BL/6 mice carrying the mutant allele

increased autoantibody level ( J:107432 )

• Background Sensitivity: mice generate autoantibodies with a reactivity that mirror the histopathology associated with this mouse strain

liver inflammation ( J:107432 )

• Background Sensitivity: liver inflammation is observed in 83% of mice by 20 weeks of age while no inflammation is present when the mutant allele is on the C57BL/6 background

lung inflammation ( J:107432 )

• 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

endocrine/exocrine glands

salivary gland inflammation ( J:107432 )

• 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

prostate gland inflammation ( J:107432 )

♂ • all mice have inflammation of the prostate by 20 weeks of age

pancreas inflammation ( J:107432 )

• 71% of 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

ovary inflammation ( J:107432 )

♀ • Background Sensitivity: 50% of mice exhibit inflammation of the ovaries on this background while no inflammation is observed in C57BL/6 mice carrying the mutant allele

digestive/alimentary system

salivary gland inflammation ( J:107432 )

• 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

stomach inflammation ( J:107432 )

• Background Sensitivity: gastritis occurs in all mice by 20 weeks of age but is rarely observed when the mutant allele is on the C57BL/6 background

liver/biliary system

liver inflammation ( J:107432 )

• Background Sensitivity: liver inflammation is observed in 83% of mice by 20 weeks of age while no inflammation is present when the mutant allele is on the C57BL/6 background

reproductive system

prostate gland inflammation ( J:107432 )

♂ • all mice have inflammation of the prostate by 20 weeks of age

ovary inflammation ( J:107432 )

♀ • Background Sensitivity: 50% 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

lung inflammation ( J:107432 )

• 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

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