Mouse Genome Informatics
hm
    Airetm1.1Doi/Airetm1.1Doi
B6.129S2-Airetm1.1Doi/Doi
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
immune system
• 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
• 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)
• 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
• cornea inflammation occurs in 60% of mice by 20 weeks of age
• 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
• cornea inflammation occurs in 60% of mice by 20 weeks of age
• Background Sensitivity: retinal degeneration resulting from autoimmune disease occurs by 20 weeks of age in 67% of mice

endocrine/exocrine glands
• 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
• 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
• 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
• 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
OMIM IDRef(s)
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia; APS1 240300 J:107432