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Symbol
Name
ID 		Aire
autoimmune regulator
MGI:1338803
Phenotype annotations related to immune system
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Keratoconjunctivitis
Asplenia
Chronic active hepatitis
Iridocyclitis
Chronic mucocutaneous candidiasis
Chronic oral candidiasis
Disease(s) Associated with AIRE
autoimmune polyendocrine syndrome type 1

Mouse Phenotypes
immune system phenotype
increased T cell proliferation
parotid gland inflammation
sublingual gland inflammation
submandibular gland inflammation
salivary gland inflammation
stomach inflammation
abnormal thymus morphology
absent Hassall's corpuscle
abnormal thymus medulla morphology
thymus atrophy
abnormal thymus physiology
thyroid gland inflammation
lacrimal gland inflammation
prostate gland inflammation
pancreas inflammation
chronic pancreas inflammation
insulitis
ovary inflammation
enlarged spleen
increased spleen weight
abnormal myelopoiesis
decreased dendritic cell number
increased dendritic cell number
decreased follicular B cell number
increased marginal zone B cell number
increased B cell number
decreased regulatory T cell number
increased T cell number
increased monocyte cell number
abnormal T cell morphology
abnormal metallophilic macrophage morphology
abnormal spleen marginal zone morphology
abnormal CD4-positive, alpha-beta T cell physiology
abnormal T-helper 1 physiology
abnormal T-helper 17 cell physiology
abnormal T cell activation
abnormal regulatory T cell physiology
abnormal cytokine level
abnormal chemokine level
increased CXCL10 level
abnormal adaptive immunity
increased interleukin-12 secretion
increased interleukin-23 secretion
increased interleukin-6 secretion
increased tumor necrosis factor secretion
autoimmune response
increased susceptibility to autoimmune disorder
increased susceptibility to autoimmune diabetes
increased autoantibody level
increased inflammatory response
CNS inflammation
eye inflammation
vitreous body inflammation
increased incidence of corneal inflammation
uveitis
liver inflammation
lung inflammation
decreased susceptibility to fungal infection
increased susceptibility to fungal infection
Availability Mouse Genotype
Airetm1.1(cre)Ghr/Airetm1.1(cre)Ghr
Airetm1.1(NCOM)Mfgc/Airetm1.1(NCOM)Mfgc
Airetm1.1Doi/Airetm1.1Doi ! ! ! ! ! ! ! ! ! !
Airetm1Mand/Airetm1Mand
Airetm1Mmat/Airetm1Mmat !
Airetm1Pltn/Airetm1Pltn *
Airetm1Ptsn/Airetm1Ptsn
Airetm2Mmat/Airetm2Mmat
Airetm1Mand/Aire+
Airetm1Mand/Airetm1.1Doi
Airetm1Mmat/Airetm2Mmat
Contributing Projects:
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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory