Phenotypes Associated with This Genotype

Genotype
MGI:7310130

• Allelic Composition: Aqp5^em1Cya/Aqp5^em1Cya
• Genetic Background: involves: C57BL/6N

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

vision/eye

abnormal lacrimal gland morphology ( J:326269 )

• epithelial cells of the lacrimal glands exhibit an increase in vacuoles

• the arrangement of acini is disordered in lacrimal glands

• lacrimal glands show a decrease in the number of acini, an increase in the area of single acinus, and a decrease in the number of epithelial cells

• lacrimal gland epithelial cells are damaged, with swollen and enlarged mitochondria, the disappearance of a large number of mitochondrial cristae, disintegrated membrane, some dissolved secretory granules, fused secretory granules, increase in autophagy bodies, enlarged cell gap, and expanded endoplasmic reticulum around the cell membrane

abnormal cornea epithelium morphology ( J:326269 )

• mice show a punctate epithelial defect in the cornea

decreased tear production ( J:326269 )

• tear volume is reduced

• however, no difference in tear volume produced by males and females

dry eyes ( J:326269 )

• mice exhibit spontaneous dry eye symptoms from birth

endocrine/exocrine glands

abnormal lacrimal gland morphology ( J:326269 )

• epithelial cells of the lacrimal glands exhibit an increase in vacuoles

• the arrangement of acini is disordered in lacrimal glands

• lacrimal glands show a decrease in the number of acini, an increase in the area of single acinus, and a decrease in the number of epithelial cells

• lacrimal gland epithelial cells are damaged, with swollen and enlarged mitochondria, the disappearance of a large number of mitochondrial cristae, disintegrated membrane, some dissolved secretory granules, fused secretory granules, increase in autophagy bodies, enlarged cell gap, and expanded endoplasmic reticulum around the cell membrane

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dry eye syndrome		DOID:10140		J:326269