Phenotypes Associated with This Genotype

Genotype
MGI:6405015

• Allelic Composition: Tgfbi^em1Yaou/Tgfbi^em1Yaou
• Genetic Background: involves: C57BL/6NCr

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

homeostasis/metabolism

delayed wound healing ( J:285437 )

• corneal wound healing is impaired, with mice showing a larger wound area 48 hours after induction of corneal abrasion than wild-type mice

vision/eye

abnormal cornea morphology ( J:285437 )

• corneas show pathognomonic, irregular, and amorphous deposits in the subepithelial stroma; deposits contain TGFBI protein

abnormal cornea stroma morphology ( J:285437 )

• several parts of the subepithelial stroma shows degeneration and fibrosis

• however, no inflammatory cell infiltration is seen

cornea opacity ( J:285437 )

• corneal opacity is first seen at 12 weeks of age and worsens until 24 weeks of age and is seen in the central cornea

• 71.8% and 80.3% of mice exhibit corneal opacity at 20 and 40 weeks of age, respectively

• over 71% of mice show bilateral corneal opacity at 12 weeks of age and increases to 91% at 40 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
corneal dystrophy		DOID:2566		J:285437