Phenotypes associated with this allele

• Allele Symbol: Timp3^tm1Web
• Allele Name: targeted mutation 1, Bernard HF Weber
• Allele ID: MGI:2183790
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Timp3^tm1Web/Timp3^tm1Web	either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)	MGI:3664350
ht2	Timp3^tm1Web/Timp3^+	either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)	MGI:3664346

Genotype
MGI:3664350

hm1

• 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

Genotype
MGI:3664346

ht2

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

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