Phenotypes Associated with This Genotype

Genotype
MGI:3576479

• Allelic Composition: Aire^tm1Mmat/Aire^tm1Mmat
• Genetic Background: involves: C57BL/6 * CBA

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

immune system

parotid gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the parotid glands

submandibular gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the submandibular glands

stomach inflammation ( J:96580 )

• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas

lacrimal gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the lacrimal glands

pancreas inflammation ( J:96580 )

• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas

autoimmune response ( J:96580 )

• developed autoimmunity against the defined target antigen, spectrin alpha 2 (alpha-fodrin), a ubiquitously expressed actin binding protein

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:96580 )

N • developed Sjogren's syndrome-like pathologic changes in the exocrine organs

parotid gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the parotid glands

submandibular gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the submandibular glands

lacrimal gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the lacrimal glands

pancreas inflammation ( J:96580 )

• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas

vision/eye

lacrimal gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the lacrimal glands

decreased tear production ( J:96580 )

• secretion of tears per unit of mouse body weight was decreased

reproductive system

reduced fertility ( J:96580 )

• homozygous crossings produced offspring only occasionally

digestive/alimentary system

parotid gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the parotid glands

submandibular gland inflammation ( J:96580 )

• infiltration of many lymphoid cells in the submandibular glands

stomach inflammation ( J:96580 )

• in 1 of 10 mutants, lymphoid cell infiltration was observed in either the stomach or pancreas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autoimmune polyendocrine syndrome type 1		DOID:0050167	OMIM:240300	J:96580
Sjogren's syndrome		DOID:12894	OMIM:270150	J:96580