Phenotypes Associated with This Genotype

Genotype
MGI:5902157

• Allelic Composition: Krt12^{tm1.1(KRT12*L132P)Arte}/Krt12^{tm1.1(KRT12*L132P)Arte}
• Genetic Background: involves: C57BL/6

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

vision/eye

abnormal cornea morphology ( J:229462 )

• the average rate of apoptosis in the corneas of 24 week old mice is increased

• corneas show an altered keratin expression profile

• however, no overt changes in corneal opacity are seen

• corneal keratinocytes show cytoplasmic vacuoles and other defects suggesting cell fragility

abnormal corneal epithelium morphology ( J:229462 )

• corneal epithelial cells are larger, contain prominent intracellular spaces and show overt cytolysis with occasional cell rupture at the corneal surface

• delaminations at the basal layer

increased corneal epithelium thickness ( J:229462 )

• corneal epithelium is about 50% thicker, although the number of cell layers is the same as in wild-type

disorganized corneal epithelium ( J:229462 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Meesmann corneal dystrophy		DOID:0060451	OMIM:PS122100	J:229462