Phenotypes associated with this allele

• Allele Symbol: Aire^tm1.1Doi
• Allele Name: targeted mutation 1.1, Christophe Benoist and Diane Mathis
• Allele ID: MGI:2661910
• Summary: 14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Aire^tm1.1Doi/Aire^tm1.1Doi	B6.129S2-Aire^tm1.1Doi/Doi	MGI:3793700
hm2	Aire^tm1.1Doi/Aire^tm1.1Doi	(B6.129S2-Aire^tm1.1Doi x NOD.129S2(B6)-Aire^tm1.1Doi)F1	MGI:3793706
hm3	Aire^tm1.1Doi/Aire^tm1.1Doi	C.129S2-Aire^tm1.1Doi/Doi	MGI:3793702
hm4	Aire^tm1.1Doi/Aire^tm1.1Doi	involves: 129S2/SvPas * C57BL/6	MGI:2661915
hm5	Aire^tm1.1Doi/Aire^tm1.1Doi	involves: 129S2/SvPas * C57BL/6 * NOD	MGI:3793707
hm6	Aire^tm1.1Doi/Aire^tm1.1Doi	NOD.129S2-Aire^tm1.1Doi	MGI:3803200
hm7	Aire^tm1.1Doi/Aire^tm1.1Doi	NOD.129S2(B6)-Aire^tm1.1Doi/Doi	MGI:3793701
hm8	Aire^tm1.1Doi/Aire^tm1.1Doi	SJL.129S2-Aire^tm1.1Doi/Doi	MGI:3793703
ht9	Aire^tm1Mand/Aire^tm1.1Doi	NOD.129-Aire^tm1Mand/Aire^tm1.1Doi	MGI:3803201
cx10	Aire^tm1.1Doi/Aire^tm1.1Doi Tg(Ins2-TFRC/OVA)296Wehi/0 Tg(TcraTcrb)425Cbn/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3803204
cx11	Aire^tm1.1Doi/Aire^tm1.1Doi Il1r1^tm1Imx/Il1r1^tm1Imx	involves: 129S2/SvPas * 129S7/SvEvBrd * NOD	MGI:5428442
cx12	Aire^tm1.1Doi/Aire^tm1.1Doi Il1r1^tm1Imx/Il1r1^+	involves: 129S2/SvPas * 129S7/SvEvBrd * NOD	MGI:5428441
cx13	Aire^tm1.1Doi/Aire^tm1.1Doi H2^b/H2^b	NOD.Cg-Aire^tm1.1Doi H2^b/Doi	MGI:3793704
cx14	Aire^tm1.1Doi/Aire^tm1.1Doi Idd3^C57BL/6/Idd3^C57BL/6 Idd5^C57BL/10SnJ/Idd5^C57BL/10SnJ	NOD.Cg-Idd3^C57BL/6 Idd5^C57BL/10SnJ Aire^tm1.1Doi/Doi	MGI:3793705

Genotype
MGI:3793700

hm1

• 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

Genotype
MGI:3793706

hm2

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi
• Genetic Background: (B6.129S2-Aire^tm1.1Doi x NOD.129S2(B6)-Aire^tm1.1Doi)F1

digestive/alimentary system

digestive/alimentary phenotype ( J:107432 )

N • Background Sensitivity: both the pancreatitis and gastritis associated with Aire^tm1.1Doi homozygotes on the NOD background are absent in this F1 cross to C57BL/6

Genotype
MGI:3793702

hm3

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

immune system

salivary gland inflammation ( J:107432 )

• Background Sensitivity: sialitis is observed in 20% 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

stomach inflammation ( J:107432 )

• Background Sensitivity: gastritis occurs in all mice by 20 weeks of age but is rarely observed in 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

ovary inflammation ( J:107432 )

♀ • Background Sensitivity: all mice exhibit inflammation of the ovaries on this background but 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

• Background Sensitivity: the autoantibodies from this strain consistently target stomach antigens with reactivity patterns distinctly different from the autoantibodies generated on the NOD background

increased incidence of corneal inflammation ( J:107432 )

• Background Sensitivity: cornea inflammation occurs in 60% of mice of this background by 20 weeks of age but is not observed when the mutant allele is on SJL or C57BL/6 background

liver inflammation ( J:107432 )

• Background Sensitivity: liver inflammation is observed in 40% 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 50% of mice by 20 weeks of age which is a much lower incidence than observed when the mutant allele is on the NOD or SJL backgrounds

vision/eye

increased incidence of corneal inflammation ( J:107432 )

• Background Sensitivity: cornea inflammation occurs in 60% of mice of this background by 20 weeks of age but is not observed when the mutant allele is on SJL or C57BL/6 background

retina degeneration ( J:107432 )

• Background Sensitivity: retinal degeneration resulting from autoimmune disease occurs by 20 weeks of age in 93% 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 much lower incidence than what is observed when the mutant allele is on other backgrounds

prostate gland inflammation ( J:107432 )

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

ovary inflammation ( J:107432 )

♀ • Background Sensitivity: all mice exhibit inflammation of the ovaries on this background but 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 20% 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

stomach inflammation ( J:107432 )

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

liver/biliary system

liver inflammation ( J:107432 )

• Background Sensitivity: liver inflammation is observed in 40% 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: all mice exhibit inflammation of the ovaries on this background but 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 50% of mice by 20 weeks of age which is a much lower incidence than observed when the mutant allele is on the NOD or SJL backgrounds

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

Genotype
MGI:2661915

hm4

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi
• Genetic Background: involves: 129S2/SvPas * C57BL/6

Stomach autoimmunity in Aire^tm1.1Doi/Aire^tm1.1Doi mice

immune system

stomach inflammation ( J:119475 )

• chronic inflammation of the stomach, particularly of the stomach mucosa

abnormal thymus medulla morphology ( J:83422 )

• thymic medullary cell (MEC) number is doubled

increased T cell number ( J:83422 )

• near doubling of the number of activated/memory CD44^hiCD62L^lo T cells

increased susceptibility to autoimmune disorder ( J:83422 )

• lymphatic infiltrates in specific regions of multiple organs

• infiltration is progressive with age

increased autoantibody level ( J:119475 )

• autoantibodies develop against the stomach

hematopoietic system

abnormal thymus medulla morphology ( J:83422 )

• thymic medullary cell (MEC) number is doubled

increased T cell number ( J:83422 )

• near doubling of the number of activated/memory CD44^hiCD62L^lo T cells

digestive/alimentary system

stomach inflammation ( J:119475 )

• chronic inflammation of the stomach, particularly of the stomach mucosa

endocrine/exocrine glands

abnormal thymus medulla morphology ( J:83422 )

• thymic medullary cell (MEC) number is doubled

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autoimmune polyendocrine syndrome type 1		DOID:0050167	OMIM:240300	J:83422

Genotype
MGI:3793707

hm5

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * NOD

immune system

salivary gland inflammation ( J:107432 )

stomach inflammation ( J:107432 )

• Background Sensitivity: a minor fraction of the mice from this F2 cross have gastritis

• Background Sensitivity: there is no correlation between pancreatitis and gastritis

pancreas inflammation ( J:107432 )

• Background Sensitivity: a minor fraction of the mice from this F2 cross have pancreatitis

• Background Sensitivity: there is no correlation between pancreatitis and gastritis

liver inflammation ( J:107432 )

• Background Sensitivity: a minor fraction of the mice from this F2 cross have inflammatory lesions in the liver

• Background Sensitivity: there some correlation between lung lesions and liver lesions

lung inflammation ( J:107432 )

• Background Sensitivity: a minor fraction of the mice from this F2 cross have inflammatory lesions in the lung

• Background Sensitivity: there some correlation between lung lesions and liver lesions

endocrine/exocrine glands

salivary gland inflammation ( J:107432 )

pancreas inflammation ( J:107432 )

• Background Sensitivity: a minor fraction of the mice from this F2 cross have pancreatitis

• Background Sensitivity: there is no correlation between pancreatitis and gastritis

digestive/alimentary system

salivary gland inflammation ( J:107432 )

stomach inflammation ( J:107432 )

• Background Sensitivity: a minor fraction of the mice from this F2 cross have gastritis

• Background Sensitivity: there is no correlation between pancreatitis and gastritis

liver/biliary system

liver inflammation ( J:107432 )

• Background Sensitivity: a minor fraction of the mice from this F2 cross have inflammatory lesions in the liver

• Background Sensitivity: there some correlation between lung lesions and liver lesions

respiratory system

lung inflammation ( J:107432 )

• Background Sensitivity: a minor fraction of the mice from this F2 cross have inflammatory lesions in the lung

• Background Sensitivity: there some correlation between lung lesions and liver lesions

Genotype
MGI:3803200

hm6

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

immune system

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

stomach inflammation ( J:135154 )

• occurs in mice by 10 weeks of age

thyroid gland inflammation ( J:135154 )

• severe thyroiditis is observed in mice 15 to 25 weeks in age

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

chronic pancreas inflammation ( J:135154 )

• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas

insulitis ( J:135154 )

• mice 25 weeks of age have intra-islet infiltration of lymphocytes

abnormal CD4-positive, alpha-beta T cell physiology ( J:135154 )

• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62L^lo CD44^hi)

uveitis ( J:135154 )

• retinal lymphocytic infiltration occurs in the eye

lung inflammation ( J:135154 )

• lymphocyte infiltrates are found in mice by 10 weeks of age

endocrine/exocrine glands

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

thyroid gland inflammation ( J:135154 )

• severe thyroiditis is observed in mice 15 to 25 weeks in age

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

chronic pancreas inflammation ( J:135154 )

• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas

insulitis ( J:135154 )

• mice 25 weeks of age have intra-islet infiltration of lymphocytes

respiratory system

lung inflammation ( J:135154 )

• lymphocyte infiltrates are found in mice by 10 weeks of age

vision/eye

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

uveitis ( J:135154 )

• retinal lymphocytic infiltration occurs in the eye

digestive/alimentary system

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

stomach inflammation ( J:135154 )

• occurs in mice by 10 weeks of age

hematopoietic system

abnormal CD4-positive, alpha-beta T cell physiology ( J:135154 )

• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62L^lo CD44^hi)

Genotype
MGI:3793701

hm7

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi
• Genetic Background: NOD.129S2(B6)-Aire^tm1.1Doi/Doi

mortality/aging

premature death ( J:107432 )

• 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

cachexia ( J:107432 )

• 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

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 87% of mice by 20 weeks of age but is rarely observed when the mutant allele is on C57BL/6

thyroid gland inflammation ( J:107432 )

• 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

prostate gland inflammation ( J:107432 )

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

pancreas inflammation ( J:107432 )

• 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

ovary inflammation ( J:107432 )

♀ • 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

increased autoantibody level ( J:107432 )

• 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

increased incidence of corneal inflammation ( J:107432 )

• 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

liver inflammation ( J:107432 )

• 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

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

• Background Sensitivity: lesions of the lung are severe enough to likely cause the runting and premature death associated with this strain

vision/eye

increased incidence of corneal inflammation ( J:107432 )

• 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

retina degeneration ( J:107432 )

• Background Sensitivity: retinal degeneration resulting from autoimmune disease occurs by 20 weeks of age in 93% of mice

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

thyroid gland inflammation ( J:107432 )

• 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

prostate gland inflammation ( J:107432 )

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

pancreas inflammation ( J:107432 )

• 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

ovary inflammation ( J:107432 )

♀ • 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

liver inflammation ( J:107432 )

• 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

prostate gland inflammation ( J:107432 )

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

ovary inflammation ( J:107432 )

♀ • 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

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

• Background Sensitivity: lesions of the lung are severe enough to likely cause the runting and premature death associated with this strain

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 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

Genotype
MGI:3793703

hm8

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

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

Genotype
MGI:3803201

ht9

• Allelic Composition: Aire^tm1Mand/Aire^tm1.1Doi
• Genetic Background: NOD.129-Aire^tm1Mand/Aire^tm1.1Doi

growth/size/body

weight loss ( J:135154 )

• weight loss is noted in mice starting at 6 weeks of age

immune system

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

stomach inflammation ( J:135154 )

• occurs in mice by 10 weeks of age

thyroid gland inflammation ( J:135154 )

• severe thyroiditis is observed in mice 15 to 25 weeks in age

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

chronic pancreas inflammation ( J:135154 )

• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas

insulitis ( J:135154 )

• mice 25 weeks of age have intra-islet infiltration of lymphocytes

abnormal CD4-positive, alpha-beta T cell physiology ( J:135154 )

• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62L^lo CD44^hi)

uveitis ( J:135154 )

• retinal lymphocytic infiltration occurs in the eye

lung inflammation ( J:135154 )

• lymphocyte infiltrates are found in mice by 10 weeks of age

endocrine/exocrine glands

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

thyroid gland inflammation ( J:135154 )

• severe thyroiditis is observed in mice 15 to 25 weeks in age

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

chronic pancreas inflammation ( J:135154 )

• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas

insulitis ( J:135154 )

• mice 25 weeks of age have intra-islet infiltration of lymphocytes

respiratory system

lung inflammation ( J:135154 )

• lymphocyte infiltrates are found in mice by 10 weeks of age

digestive/alimentary system

salivary gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands

stomach inflammation ( J:135154 )

• occurs in mice by 10 weeks of age

vision/eye

lacrimal gland inflammation ( J:135154 )

• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands

uveitis ( J:135154 )

• retinal lymphocytic infiltration occurs in the eye

hematopoietic system

abnormal CD4-positive, alpha-beta T cell physiology ( J:135154 )

• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62L^lo CD44^hi)

Genotype
MGI:3803204

cx10

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi; Tg(Ins2-TFRC/OVA)296Wehi/0; Tg(TcraTcrb)425Cbn/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

immune system

abnormal T cell differentiation ( J:135154 )

• negative selection of CD 4 T cells bearing the transgenic TCR is impaired as evidenced by only a slight reduction of clonotypic T cells occuring in the thymus and spleen

decreased CD4-positive, alpha-beta T cell number ( J:135154 )

• there is a slight reduction in the number of CD4 single positive thymocytes in the thymus compared to controls

hematopoietic system

abnormal T cell differentiation ( J:135154 )

• negative selection of CD 4 T cells bearing the transgenic TCR is impaired as evidenced by only a slight reduction of clonotypic T cells occuring in the thymus and spleen

decreased CD4-positive, alpha-beta T cell number ( J:135154 )

• there is a slight reduction in the number of CD4 single positive thymocytes in the thymus compared to controls

Genotype
MGI:5428442

cx11

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi; Il1r1^tm1Imx/Il1r1^tm1Imx
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * NOD

vision/eye

lacrimal gland inflammation ( J:163691 )

• mostly CD4+ T cells

keratoconjunctivitis ( J:163691 )

abnormal conjunctiva goblet cell morphology ( J:163691 )

• mice exhibit an increase in acidified conjunctival goblet cells compared with wild-type mice that is not as severe as in Aire^tm1.1Doi homozygotes

• however, the total number of goblet cells is normal

abnormal cornea epithelium morphology ( J:163691 )

• mice exhibit ocular mucosal epithelia metaplasia and ocular surface epitheliopathy that is not as severe as in Aire^tm1.1Doi homozygotes

cornea opacity ( J:163691 )

• progresses from desiccation and keratinization of the ocular surface

dry eyes ( J:163691 )

immune system

lacrimal gland inflammation ( J:163691 )

• mostly CD4+ T cells

keratoconjunctivitis ( J:163691 )

endocrine/exocrine glands

lacrimal gland inflammation ( J:163691 )

• mostly CD4+ T cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:163691

Genotype
MGI:5428441

cx12

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi; Il1r1^tm1Imx/Il1r1⁺
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * NOD

vision/eye

lacrimal gland inflammation ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

keratoconjunctivitis ( J:163691 )

cornea opacity ( J:163691 )

• progresses from desiccation and keratinization of the ocular surface

abnormal ocular surface morphology ( J:163691 )

• desiccation and keratinization of the ocular surface

• ocular surface epitheliopathy

abnormal lacrimal gland morphology ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

abnormal conjunctiva goblet cell morphology ( J:163691 )

• mice exhibit an increase in acidified conjunctival goblet cells compared with wild-type mice

• however, the total number of goblet cells is normal

abnormal cornea epithelium morphology ( J:163691 )

• ocular mucosal epithelia metaplasia

• squamous metaplasia

dry eyes ( J:163691 )

endocrine/exocrine glands

abnormal lacrimal gland morphology ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

lacrimal gland inflammation ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

immune system

lacrimal gland inflammation ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

keratoconjunctivitis ( J:163691 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:163691

Genotype
MGI:3793704

cx13

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi; H2^b/H2^b
• Genetic Background: NOD.Cg-Aire^tm1.1Doi H2^b/Doi

immune system

stomach inflammation ( J:107432 )

• Background Sensitivity: stomach inflammation is present regardless of the alleles found at the H2 locus

digestive/alimentary system

stomach inflammation ( J:107432 )

• Background Sensitivity: stomach inflammation is present regardless of the alleles found at the H2 locus

endocrine/exocrine glands

abnormal pancreas physiology ( J:107432 )

• Background Sensitivity: the pancreatitis associated with the Aire^tm1.1Doi allele on the NOD background is absent when the H2^g7 allele is present at homozygocity

Genotype
MGI:3793705

cx14

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi; Idd3^C57BL/6/Idd3^C57BL/6; Idd5^C57BL/10SnJ/Idd5^C57BL/10SnJ
• Genetic Background: NOD.Cg-Idd3^C57BL/6 Idd5^C57BL/10SnJ Aire^tm1.1Doi/Doi

immune system

stomach inflammation ( J:107432 )

digestive/alimentary system

stomach inflammation ( J:107432 )

endocrine/exocrine glands

abnormal pancreas physiology ( J:107432 )

• Background Sensitivity: the pancreatitis associated with the Aire^tm1.1Doi allele on the NOD background is much less severe when these alleles of Idd3 and Idd5 are present

• Background Sensitivity: the gastritis associated with the Aire^tm1.1Doi allele on the NOD background is much less severe when these alleles of Idd3 and Idd5 are present