Phenotypes Associated with This Genotype

Genotype
MGI:2661915

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

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

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