Phenotypes Associated with This Genotype

Genotype
MGI:5298094

• Allelic Composition: Tg(CAG-cat,-Dcn*)#Debi/0; Tg(Kera-cre)KC4.3Wwk/0
• Genetic Background: involves: FVB/N

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

vision/eye

abnormal corneal stroma morphology ( J:177392 )

• lamellar structure is disrupted, more severely in the posterior stroma

• relatively normal lamellae are separated by abnormal zones in which collagen fibrils are irregularly packed and embedded in an electron lucent substance

• collagen fibrillogenesis is altered, interfibril spacing is increased, and in electron lucent zones fibril diameters are reduced

abnormal cornea posterior stroma morphology ( J:177392 )

• disruption of the lamellar structure is more severe in the posterior stroma

corneal opacity ( J:177392 )

• the extent of stromal opacity varies from hardly visualized cloudiness to overt opacity

• generally develop by about 1 month of age with a slow progression of opacity afterward

• opacity is more severe in the central cornea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital stromal corneal dystrophy		DOID:0060445	OMIM:610048	J:177392