Phenotypes associated with this allele

• Allele Symbol: Tgfbi^em1Yaou
• Allele Name: endonuclease-mediated mutation 1, Yasuo Ouchi
• Allele ID: MGI:6405013
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tgfbi^em1Yaou/Tgfbi^em1Yaou	involves: C57BL/6NCr	MGI:6405015
ht2	Tgfbi^em1Yaou/Tgfbi^+	involves: C57BL/6NCr	MGI:6405016

Genotype
MGI:6405015

hm1

• 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

Genotype
MGI:6405016

ht2

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

vision/eye

cornea opacity ( J:285437 )

• a small percentage of mice over 24 weeks of age show the development of corneal opacity in the central cornea, with only 9.1% developing bilateral corneal opacity until 40 weeks of age