Analysis Tools|
Allele Symbol Allele Name Allele ID |
Aire+ wild type MGI:2437703 |
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| Summary |
5 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands
• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype
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• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands
• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype
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• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands
• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype
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• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands
• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype
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• mice 15 to 25 weeks of age have lymphocytic infiltration of the lacrimal glands
• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype
|
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• mice 15 to 25 weeks of age have lymphocytic infiltration of the salivary glands
• enhanced lympocytic infiltration of glands occurs in irradiated bone marrow chimeras when the recipient but not the donor is of the mutant genotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• crosses of heterozygous with heterozygous breeding sets exhibit a 44% reduction in fertility compared to controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62Llo CD44hi)
(J:135154)
• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response
(J:188686)
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• chemokines CXCL10, CCL2, and CCL5 are upregulated in sciatic nerves
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• CXCL10 is upregulated in sciatic nerves
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• diabetes mellitus occurs in females at an incidence rate (20%) similar to that observed in the NOD strain with wild-type Aire alleles
(J:135154)
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• presence of autoantibodies in the sciatic nerve; autoantibodies are specific for myelin protein zero (P0)
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• immune cell (mononuclear) infiltration into sciatic nerves, but not in brain or spinal cord
• while a previous study found that mice either develop diabetes or neuropathy, in this study mice with both diabetes and neuropathy are seen on a rare occasion and they exhibit moderate immune infiltration in the sciatic nerves
• nerve infiltrates frequently consist of CD4+ Th cells and F4/80+ macrophages
• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response
• mutants with spontaneous autoimmune diabetes that do not develop neuropathy do not show immune infiltration in the sciatic nerve
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• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
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• severe thyroiditis is observed in mice 25 to 30 weeks in age
• some mice have complete obliteration of the thyroid follicles
• 25% of mice have at least half of their thyroid gland effaced
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• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
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• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas
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• lymphocytic infiltration of the CNS leads to hind limb paralysis by 22 weeks of age in 80% of mice
• mice develop either diabetes or neuropathy but are never observed having both conditions
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• clasping of hind limbs indicates bilateral weakness
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• about 80% of females develop spontaneous autoimmune neuropathy by 22 weeks of age, displaying bilateral weakness of the hind limbs that progresses to severe paralysis affecting all limbs
• diabetic mutants maintained on insulin rarely develop neuropathy
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• progressive peripheral neuropathy results in hind limb paralysis by beginning at 17 weeks of age
• over 80% of mice exhibit this neuropathy by 22 weeks of age
• mice develop either diabetes or neuropathy but are never observed having both conditions
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• lymphocytic infiltration of the CNS leads to hind limb paralysis by 22 weeks of age in 80% of mice
• mice develop either diabetes or neuropathy but are never observed having both conditions
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• about 80% of females develop spontaneous autoimmune neuropathy by 22 weeks of age
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• lymphocytic infiltration occurs in the sciatic nerve of mice that have hind limb paralysis
(J:135154)
• immune cell (mononuclear) infiltration into sciatic nerves, but not in brain or spinal cord
(J:188686)
• multifocal areas of demyelination in the sciatic nerve
(J:188686)
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• multifocal areas of demyelination in the sciatic nerve and demyelination of individual axons are seen
• a decrease in density of myelinated axons is seen in the sciatic nerve of neuropathic mutants
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• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
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• severe thyroiditis is observed in mice 25 to 30 weeks in age
• some mice have complete obliteration of the thyroid follicles
• 25% of mice have at least half of their thyroid gland effaced
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• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
|
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• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas
|
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• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands
|
|
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands
|
|
• chemokines CXCL10, CCL2, and CCL5 are upregulated in sciatic nerves
|
|
• CXCL10 is upregulated in sciatic nerves
|
|
• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62Llo CD44hi)
(J:135154)
• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response
(J:188686)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Guillain-Barre syndrome | DOID:12842 |
OMIM:139393 |
J:188686 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• negative selection fails to occur of CD 4 T cells bearing the transgenic TCR as evidenced by the normal number of clonotypic T cells found in the thymus and spleen
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• negative selection fails to occur of CD 4 T cells bearing the transgenic TCR as evidenced by the normal number of clonotypic T cells found in the thymus and spleen
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 03/18/2025 MGI 6.24 |
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