Phenotypes Associated with This Genotype

Genotype
MGI:3664350

• Allelic Composition: Timp3^tm1Web/Timp3^tm1Web
• 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, exhibit a general derangement of the basal layer, with a loss of the palisade-like orientation of the microvilli accompanied by a marked reduction in thickness up to a complete loss of the entire labyrinth, however, retinal function is normal throughout life and no differences are seen in the neuronal layers of the retina

• at 8 months of age, display a disruption in the elongation of the apical processes and the processes are composed of small, vesiculated structures that do not envelop the outer segments and form a barrier between the outer segments and the epithelium

abnormal Bruch membrane morphology ( J:78059 )

• at 8 months of age, exhibit abnormalities in the inner aspect of Bruch's membrane

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

pigmentation

abnormal retina pigment epithelium morphology ( J:78059 )

• at 8 months of age, exhibit a general derangement of the basal layer, with a loss of the palisade-like orientation of the microvilli accompanied by a marked reduction in thickness up to a complete loss of the entire labyrinth, however, retinal function is normal throughout life and no differences are seen in the neuronal layers of the retina

• at 8 months of age, display a disruption in the elongation of the apical processes and the processes are composed of small, vesiculated structures that do not envelop the outer segments and form a barrier between the outer segments and the epithelium

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