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Phenotypes Associated with This Genotype
Genotype
MGI:3803199
Allelic
Composition
Airetm1Mand/Aire+
Genetic
Background
NOD.129P2-Airetm1Mand
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1Mand mutation (0 available); any Aire mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62Llo CD44hi) (J:135154)
• 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)
• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response (J:188686)
• chemokines CXCL10, CCL2, and CCL5 are upregulated in sciatic nerves (J:188686)
• chemokines CXCL10, CCL2, and CCL5 are upregulated in sciatic nerves (J:188686)
• 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)
• 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)
• presence of autoantibodies in the sciatic nerve; autoantibodies are specific for myelin protein zero (P0) (J:188686)
• presence of autoantibodies in the sciatic nerve; autoantibodies are specific for myelin protein zero (P0) (J:188686)
• immune cell (mononuclear) infiltration into sciatic nerves, but not in brain or spinal cord (J:188686)
• 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 (J:188686)
• nerve infiltrates frequently consist of CD4+ Th cells and F4/80+ macrophages (J:188686)
• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response (J:188686)
• mutants with spontaneous autoimmune diabetes that do not develop neuropathy do not show immune infiltration in the sciatic nerve (J:188686)
• immune cell (mononuclear) infiltration into sciatic nerves, but not in brain or spinal cord (J:188686)
• 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 (J:188686)
• nerve infiltrates frequently consist of CD4+ Th cells and F4/80+ macrophages (J:188686)
• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response (J:188686)
• mutants with spontaneous autoimmune diabetes that do not develop neuropathy do not show immune infiltration in the sciatic nerve (J:188686)
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands (J:135154)
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands (J:135154)
• severe thyroiditis is observed in mice 25 to 30 weeks in age (J:135154)
• some mice have complete obliteration of the thyroid follicles (J:135154)
• 25% of mice have at least half of their thyroid gland effaced (J:135154)
• severe thyroiditis is observed in mice 25 to 30 weeks in age (J:135154)
• some mice have complete obliteration of the thyroid follicles (J:135154)
• 25% of mice have at least half of their thyroid gland effaced (J:135154)
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands (J:135154)
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands (J:135154)
• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas (J:135154)
• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas (J:135154)
• insulitis occurs in female mice without severe pancreatitis (J:135154)
• insulitis occurs in female mice without severe pancreatitis (J:135154)
• lymphocytic infiltration of the CNS leads to hind limb paralysis by 22 weeks of age in 80% of mice (J:135154)
• mice develop either diabetes or neuropathy but are never observed having both conditions (J:135154)
• lymphocytic infiltration of the CNS leads to hind limb paralysis by 22 weeks of age in 80% of mice (J:135154)
• mice develop either diabetes or neuropathy but are never observed having both conditions (J:135154)

behavior/neurological
• clasping of hind limbs indicates bilateral weakness (J:188686)
• clasping of hind limbs indicates bilateral weakness (J:188686)
• 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 (J:188686)
• diabetic mutants maintained on insulin rarely develop neuropathy (J:188686)
• 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 (J:188686)
• diabetic mutants maintained on insulin rarely develop neuropathy (J:188686)
• progressive peripheral neuropathy results in hind limb paralysis by beginning at 17 weeks of age (J:135154)
• over 80% of mice exhibit this neuropathy by 22 weeks of age (J:135154)
• mice develop either diabetes or neuropathy but are never observed having both conditions (J:135154)
• progressive peripheral neuropathy results in hind limb paralysis by beginning at 17 weeks of age (J:135154)
• over 80% of mice exhibit this neuropathy by 22 weeks of age (J:135154)
• mice develop either diabetes or neuropathy but are never observed having both conditions (J:135154)

nervous system
• lymphocytic infiltration of the CNS leads to hind limb paralysis by 22 weeks of age in 80% of mice (J:135154)
• mice develop either diabetes or neuropathy but are never observed having both conditions (J:135154)
• lymphocytic infiltration of the CNS leads to hind limb paralysis by 22 weeks of age in 80% of mice (J:135154)
• mice develop either diabetes or neuropathy but are never observed having both conditions (J:135154)
• about 80% of females develop spontaneous autoimmune neuropathy by 22 weeks of age (J:188686)
• about 80% of females develop spontaneous autoimmune neuropathy by 22 weeks of age (J:188686)
• lymphocytic infiltration occurs in the sciatic nerve of mice that have hind limb paralysis (J:135154)
• 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)
• 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)
• multifocal areas of demyelination in the sciatic nerve and demyelination of individual axons are seen (J:188686)
• a decrease in density of myelinated axons is seen in the sciatic nerve of neuropathic mutants (J:188686)
• multifocal areas of demyelination in the sciatic nerve and demyelination of individual axons are seen (J:188686)
• a decrease in density of myelinated axons is seen in the sciatic nerve of neuropathic mutants (J:188686)

endocrine/exocrine glands
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands (J:135154)
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands (J:135154)
• severe thyroiditis is observed in mice 25 to 30 weeks in age (J:135154)
• some mice have complete obliteration of the thyroid follicles (J:135154)
• 25% of mice have at least half of their thyroid gland effaced (J:135154)
• severe thyroiditis is observed in mice 25 to 30 weeks in age (J:135154)
• some mice have complete obliteration of the thyroid follicles (J:135154)
• 25% of mice have at least half of their thyroid gland effaced (J:135154)
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands (J:135154)
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands (J:135154)
• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas (J:135154)
• mice 10 weeks have age have severe lymphocytic infiltration of the pancreas (J:135154)
• insulitis occurs in female mice without severe pancreatitis (J:135154)
• insulitis occurs in female mice without severe pancreatitis (J:135154)

vision/eye
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands (J:135154)
• mice 10 weeks of age have severe lymphocytic infiltration of the lacrimal glands (J:135154)

digestive/alimentary system
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands (J:135154)
• mice 10 weeks of age have severe lymphocytic infiltration of the salivary glands (J:135154)

homeostasis/metabolism
• chemokines CXCL10, CCL2, and CCL5 are upregulated in sciatic nerves (J:188686)
• chemokines CXCL10, CCL2, and CCL5 are upregulated in sciatic nerves (J:188686)

hematopoietic system
• there is increased percentage of CD4 T cells in the spleen that are activated based on surface marker expression (CD62Llo CD44hi) (J:135154)
• 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)
• mutants show an increase in IFN-gamma producing CD4+ T cells within sciatic nerves and the spleen, indicating a Th1 effector response (J:188686)

Mouse Models of Human Disease
OMIM ID Ref(s)
Guillain-Barre Syndrome, Familial; GBS 139393 J:188686


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
01/26/2016
MGI 6.02
The Jackson Laboratory