Phenotypes Associated with This Genotype

Genotype
MGI:3664346

• Allelic Composition: Timp3^tm1Web/Timp3⁺
• Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)

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

vision/eye

abnormal retina pigment epithelium morphology ( J:78059 )

• at 8 months of age, the retinal pigment epithelium displays localized disorientation of the apical processes and reduction in thickness and complexity of the basal microvilli and occasionally wide-open caverns that extend from the basal labyrinth into the cytoplasm of the cell, however retinal function is normal throughout life

abnormal Bruch membrane morphology ( J:78059 )

• at 30 months of age, the layering of Bruch's membrane is still present, but less clearly expressed and shows increased thickening and marked disturbances of the inner collagenous layer

pigmentation

abnormal retina pigment epithelium morphology ( J:78059 )

• at 8 months of age, the retinal pigment epithelium displays localized disorientation of the apical processes and reduction in thickness and complexity of the basal microvilli and occasionally wide-open caverns that extend from the basal labyrinth into the cytoplasm of the cell, however retinal function is normal throughout life

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sorsby's fundus dystrophy		DOID:0090114	OMIM:136900	J:78059