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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Airetm1.1Doi
targeted mutation 1.1, Christophe Benoist and Diane Mathis
MGI:2661910
Summary 14 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Airetm1.1Doi/Airetm1.1Doi (B6.129S2-Airetm1.1Doi x NOD.129S2(B6)-Airetm1.1Doi)F1 MGI:3793706
hm2
Airetm1.1Doi/Airetm1.1Doi B6.129S2-Airetm1.1Doi/Doi MGI:3793700
hm3
Airetm1.1Doi/Airetm1.1Doi C.129S2-Airetm1.1Doi/Doi MGI:3793702
hm4
Airetm1.1Doi/Airetm1.1Doi involves: 129S2/SvPas * C57BL/6 MGI:2661915
hm5
Airetm1.1Doi/Airetm1.1Doi involves: 129S2/SvPas * C57BL/6 * NOD MGI:3793707
hm6
Airetm1.1Doi/Airetm1.1Doi NOD.129S2(B6)-Airetm1.1Doi/Doi MGI:3793701
hm7
Airetm1.1Doi/Airetm1.1Doi NOD.129S2-Airetm1.1Doi MGI:3803200
hm8
Airetm1.1Doi/Airetm1.1Doi SJL.129S2-Airetm1.1Doi/Doi MGI:3793703
ht9
Airetm1Mand/Airetm1.1Doi NOD.129-Airetm1Mand/Airetm1.1Doi MGI:3803201
cx10
Airetm1.1Doi/Airetm1.1Doi
Tg(Ins2-TFRC/OVA)296Wehi/0
Tg(TcraTcrb)425Cbn/0
involves: 129P2/OlaHsd * C57BL/6 MGI:3803204
cx11
Airetm1.1Doi/Airetm1.1Doi
Il1r1tm1Imx/Il1r1+
involves: 129S2/SvPas * 129S7/SvEvBrd * NOD MGI:5428441
cx12
Airetm1.1Doi/Airetm1.1Doi
Il1r1tm1Imx/Il1r1tm1Imx
involves: 129S2/SvPas * 129S7/SvEvBrd * NOD MGI:5428442
cx13
Airetm1.1Doi/Airetm1.1Doi
H2b/H2b
NOD.Cg-Airetm1.1Doi H2b/Doi MGI:3793704
cx14
Airetm1.1Doi/Airetm1.1Doi
Idd3C57BL/6/Idd3C57BL/6
Idd5C57BL/10SnJ/Idd5C57BL/10SnJ
NOD.Cg-Idd3C57BL/6 Idd5C57BL/10SnJ Airetm1.1Doi/Doi MGI:3793705


Genotype
MGI:3793706
hm1
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Genetic
Background
(B6.129S2-Airetm1.1Doi x NOD.129S2(B6)-Airetm1.1Doi)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
N
• Background Sensitivity: both the pancreatitis and gastritis associated with Airetm1.1Doi homozygotes on the NOD background are absent in this F1 cross to C57BL/6




Genotype
MGI:3793700
hm2
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Genetic
Background
B6.129S2-Airetm1.1Doi/Doi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:3793702
hm3
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Genetic
Background
C.129S2-Airetm1.1Doi/Doi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• 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
• 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
• all mice have inflammation of the prostate by 20 weeks of age
• 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
• 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
• 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
• 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
• 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
• 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
• retinal degeneration resulting from autoimmune disease occurs by 20 weeks of age in 93% of mice

endocrine/exocrine glands
• 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
• all mice have inflammation of the prostate by 20 weeks of age
• 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
• 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
• 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
• 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
• all mice have inflammation of the prostate by 20 weeks of age
• 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
• 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




Genotype
MGI:2661915
hm4
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Stomach autoimmunity in Airetm1.1Doi/Airetm1.1Doi mice

immune system
• chronic inflammation of the stomach, particularly of the stomach mucosa
• thymic medullary cell (MEC) number is doubled
• near doubling of the number of activated/memory CD44hiCD62Llo T cells
• lymphatic infiltrates in specific regions of multiple organs
• infiltration is progressive with age
• autoantibodies develop against the stomach

hematopoietic system
• thymic medullary cell (MEC) number is doubled
• near doubling of the number of activated/memory CD44hiCD62Llo T cells

digestive/alimentary system
• chronic inflammation of the stomach, particularly of the stomach mucosa

endocrine/exocrine glands
• thymic medullary cell (MEC) number is doubled




Genotype
MGI:3793707
hm5
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * NOD
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• Background Sensitivity: a minor fraction of the mice from this F2 cross have gastritis
• Background Sensitivity: there is no correlation between pancreatitis and gastritis
• Background Sensitivity: a minor fraction of the mice from this F2 cross have pancreatitis
• Background Sensitivity: there is no correlation between pancreatitis and gastritis
• 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
• 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
• 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
• 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
• 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
• 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:3793701
hm6
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 (20 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




Genotype
MGI:3803200
hm7
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Genetic
Background
NOD.129S2-Airetm1.1Doi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
• occurs in mice by 10 weeks of age
• severe thyroiditis is observed in mice 15 to 25 weeks in age
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas
• mice 25 weeks of age have intra-islet infiltration of lymphocytes
• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62Llo CD44hi)
• retinal lymphocytic infiltration occurs in the eye
• lymphocyte infiltrates are found in mice by 10 weeks of age

endocrine/exocrine glands
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
• severe thyroiditis is observed in mice 15 to 25 weeks in age
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas
• mice 25 weeks of age have intra-islet infiltration of lymphocytes

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

vision/eye
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
• retinal lymphocytic infiltration occurs in the eye

digestive/alimentary system
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
• occurs in mice by 10 weeks of age

hematopoietic system
• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62Llo CD44hi)




Genotype
MGI:3793703
hm8
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Genetic
Background
SJL.129S2-Airetm1.1Doi/Doi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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 all mice by 20 weeks of age but is rarely observed when the mutant allele is on the C57BL/6 background
• all mice have inflammation of the prostate by 20 weeks of age
• 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
• 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
• Background Sensitivity: mice generate autoantibodies with a reactivity that mirror the histopathology associated with this mouse strain
• 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
• 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
• 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
• all mice have inflammation of the prostate by 20 weeks of age
• 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
• 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
• 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 all mice by 20 weeks of age but is rarely observed when the mutant allele is on the C57BL/6 background

liver/biliary system
• 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
• all mice have inflammation of the prostate by 20 weeks of age
• 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
• 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




Genotype
MGI:3803201
ht9
Allelic
Composition
Airetm1Mand/Airetm1.1Doi
Genetic
Background
NOD.129-Airetm1Mand/Airetm1.1Doi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
Airetm1Mand mutation (0 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• weight loss is noted in mice starting at 6 weeks of age

immune system
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
• occurs in mice by 10 weeks of age
• severe thyroiditis is observed in mice 15 to 25 weeks in age
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas
• mice 25 weeks of age have intra-islet infiltration of lymphocytes
• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62Llo CD44hi)
• retinal lymphocytic infiltration occurs in the eye
• lymphocyte infiltrates are found in mice by 10 weeks of age

endocrine/exocrine glands
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
• severe thyroiditis is observed in mice 15 to 25 weeks in age
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas
• mice 25 weeks of age have intra-islet infiltration of lymphocytes

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

digestive/alimentary system
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
• occurs in mice by 10 weeks of age

vision/eye
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
• retinal lymphocytic infiltration occurs in the eye

hematopoietic system
• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62Llo CD44hi)




Genotype
MGI:3803204
cx10
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Tg(Ins2-TFRC/OVA)296Wehi/0
Tg(TcraTcrb)425Cbn/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
Tg(Ins2-TFRC/OVA)296Wehi mutation (1 available)
Tg(TcraTcrb)425Cbn mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• 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
• there is a slight reduction in the number of CD4 single positive thymocytes in the thymus compared to controls

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




Genotype
MGI:5428441
cx11
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Il1r1tm1Imx/Il1r1+
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd * NOD
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
Il1r1tm1Imx mutation (4 available); any Il1r1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• inflammation damages the tear-secreting acinar cells and interlobular septa
• progresses from desiccation and keratinization of the ocular surface
• desiccation and keratinization of the ocular surface
• ocular surface epitheliopathy
• inflammation damages the tear-secreting acinar cells and interlobular septa
• mice exhibit an increase in acidified conjunctival goblet cells compared with wild-type mice
• however, the total number of goblet cells is normal
• ocular mucosal epithelia metaplasia
• squamous metaplasia

endocrine/exocrine glands
• inflammation damages the tear-secreting acinar cells and interlobular septa
• inflammation damages the tear-secreting acinar cells and interlobular septa

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Sjogren Syndrome 270150 J:163691




Genotype
MGI:5428442
cx12
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Il1r1tm1Imx/Il1r1tm1Imx
Genetic
Background
involves: 129S2/SvPas * 129S7/SvEvBrd * NOD
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
Il1r1tm1Imx mutation (4 available); any Il1r1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mostly CD4+ T cells
• mice exhibit an increase in acidified conjunctival goblet cells compared with wild-type mice that is not as severe as in Airetm1.1Doi homozygotes
• however, the total number of goblet cells is normal
• mice exhibit ocular mucosal epithelia metaplasia and ocular surface epitheliopathy that is not as severe as in Airetm1.1Doi homozygotes
• progresses from desiccation and keratinization of the ocular surface

immune system
• mostly CD4+ T cells

endocrine/exocrine glands
• mostly CD4+ T cells

Mouse Models of Human Disease
OMIM ID Ref(s)
Sjogren Syndrome 270150 J:163691




Genotype
MGI:3793704
cx13
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
H2b/H2b
Genetic
Background
NOD.Cg-Airetm1.1Doi H2b/Doi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
H2b mutation (25 available); any H2 mutation (251 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• Background Sensitivity: stomach inflammation is present regardless of the alleles found at the H2 locus

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

endocrine/exocrine glands
• Background Sensitivity: the pancreatitis associated with the Aire allele on the NOD background is absent when the H2 allele is present at homozygocity




Genotype
MGI:3793705
cx14
Allelic
Composition
Airetm1.1Doi/Airetm1.1Doi
Idd3C57BL/6/Idd3C57BL/6
Idd5C57BL/10SnJ/Idd5C57BL/10SnJ
Genetic
Background
NOD.Cg-Idd3C57BL/6 Idd5C57BL/10SnJ Airetm1.1Doi/Doi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1.1Doi mutation (2 available); any Aire mutation (20 available)
Idd3C57BL/6 mutation (5 available); any Idd3 mutation (12 available)
Idd5C57BL/10SnJ mutation (5 available); any Idd5 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system

digestive/alimentary system

endocrine/exocrine glands
• Background Sensitivity: the pancreatitis associated with the Aire 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 allele on the NOD background is much less severe when these alleles of Idd3 and Idd5 are present





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory