Phenotypes Associated with This Genotype

Genotype
MGI:5428441

• Allelic Composition: Aire^tm1.1Doi/Aire^tm1.1Doi; Il1r1^tm1Imx/Il1r1⁺
• 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 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

keratoconjunctivitis ( J:163691 )

corneal opacity ( J:163691 )

• progresses from desiccation and keratinization of the ocular surface

abnormal ocular surface morphology ( J:163691 )

• desiccation and keratinization of the ocular surface

• ocular surface epitheliopathy

abnormal lacrimal gland morphology ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

abnormal conjunctiva goblet cell morphology ( J:163691 )

• mice exhibit an increase in acidified conjunctival goblet cells compared with wild-type mice

• however, the total number of goblet cells is normal

abnormal corneal epithelium morphology ( J:163691 )

• ocular mucosal epithelia metaplasia

• squamous metaplasia

dry eyes ( J:163691 )

endocrine/exocrine glands

abnormal lacrimal gland morphology ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

lacrimal gland inflammation ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

immune system

lacrimal gland inflammation ( J:163691 )

• inflammation damages the tear-secreting acinar cells and interlobular septa

keratoconjunctivitis ( J:163691 )

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