Phenotypes Associated with This Genotype

Genotype
MGI:5428442

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi; Il1r1^tm1Imx/Il1r1^tm1Imx
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * NOD

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

vision/eye

lacrimal gland inflammation ( J:163691 )

• mostly CD4+ T cells

keratoconjunctivitis ( J:163691 )

abnormal conjunctiva goblet cell morphology ( J:163691 )

• mice exhibit an increase in acidified conjunctival goblet cells compared with wild-type mice that is not as severe as in Aire^tm1.1Doi homozygotes

• however, the total number of goblet cells is normal

abnormal cornea epithelium morphology ( J:163691 )

• mice exhibit ocular mucosal epithelia metaplasia and ocular surface epitheliopathy that is not as severe as in Aire^tm1.1Doi homozygotes

cornea opacity ( J:163691 )

• progresses from desiccation and keratinization of the ocular surface

dry eyes ( J:163691 )

immune system

lacrimal gland inflammation ( J:163691 )

• mostly CD4+ T cells

keratoconjunctivitis ( J:163691 )

endocrine/exocrine glands

lacrimal gland inflammation ( J:163691 )

• mostly CD4+ T cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:163691