Phenotypes Associated with This Genotype

Genotype
MGI:3793700

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi
• Genetic Background: B6.129S2-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 20% of mice by 20 weeks of age which is a lower incidence than what is observed when the mutant allele is on the NOD or SJL backgrounds

stomach inflammation ( J:107432 )

• Background Sensitivity: gastritis occurs in only 9% of mice by 20 weeks of age on this background but has a much higher incidence when the mutant allele is on other backgrounds (100% in SJL and BALB/c, 87% in NOD)

increased autoantibody level ( J:107432 )

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

• Background Sensitivity: autoantibodies from these mice show only sporadic and weak reactivity to salivary and gastric antigens

increased incidence of corneal inflammation ( J:107432 )

• cornea inflammation occurs in 60% of mice by 20 weeks of age

lung inflammation ( J:107432 )

• Background Sensitivity: lung inflammation is observed in 36% of mice by 20 weeks of age which is a much lower incidence than what is observed when the mutant allele is on other backgrounds

vision/eye

increased incidence of corneal inflammation ( J:107432 )

• cornea inflammation occurs in 60% of mice by 20 weeks of age

retina degeneration ( J:107432 )

• Background Sensitivity: retinal degeneration resulting from autoimmune disease occurs by 20 weeks of age in 67% of mice

endocrine/exocrine glands

salivary gland inflammation ( J:107432 )

• Background Sensitivity: sialitis is observed in 20% of mice by 20 weeks of age which is a lower incidence than what is observed when the mutant allele is on the NOD or SJL backgrounds

digestive/alimentary system

salivary gland inflammation ( J:107432 )

• Background Sensitivity: sialitis is observed in 20% of mice by 20 weeks of age which is a lower incidence than what is observed when the mutant allele is on the NOD or SJL backgrounds

stomach inflammation ( J:107432 )

• Background Sensitivity: gastritis occurs in only 9% of mice by 20 weeks of age on this background but has a much higher incidence when the mutant allele is on other backgrounds (100% in SJL and BALB/c, 87% in NOD)

respiratory system

lung inflammation ( J:107432 )

• Background Sensitivity: lung inflammation is observed in 36% of mice by 20 weeks of age which is a much lower incidence than what is observed when the mutant allele is on other backgrounds

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