Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrtm1Tili mutation
(0 available);
any
Rpgr mutation
(8 available)
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nervous system
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• mislocalization of S- and M-opsins to cell body and synaptic layer at age P20-40
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vision/eye
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• metallic gray color (instead of orange-red) at age 7 months
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• mislocalization of S- and M-opsins to cell body and synaptic layer at age P20-40
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrtm1Tili mutation
(0 available);
any
Rpgr mutation
(8 available)
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Light micrographs of retinal sections of wild-type and Rpgrtm1Tili/Rpgrtm1Tili mice.
vision/eye
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• outer segment length is reduced at 6 months of age
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• rhodopsins are not appreciably mislocalized but are reduced in the outer segments
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• blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions
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• substantial loss of photoreceptor cells by 6 months
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• loss of nearly all cones by 2 years of age
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• loss of 2/3 of rods by 2 years of age
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• thickness of the outer nuclear layer is reduced at 6 months of age
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• retinal degeneration apparently under way by 2 months of age
• reduction in photoreceptor nuclear layer thickness
• newly formed disk membranes are disorganized
• connecting cilia are normal
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• retinal function normal at 30 days
• abnormal function appears in conjunction with morphological degeneration
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nervous system
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• outer segment length is reduced at 6 months of age
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• rhodopsins are not appreciably mislocalized but are reduced in the outer segments
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• blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions
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• substantial loss of photoreceptor cells by 6 months
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• loss of nearly all cones by 2 years of age
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• loss of 2/3 of rods by 2 years of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrtm1Tili mutation
(0 available);
any
Rpgr mutation
(8 available)
Tg(CMV-Rpgr)1Tili mutation
(0 available)
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vision/eye
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• retinal degeneration occurs very rapidly
• 50% of photoreceptors are lost by 40 days of age as opposed to 2 years for Rpgr null homozygotes
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• dark adapted rod EGRs were reduced at 40 days of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrip1tm1Tili mutation
(0 available);
any
Rpgrip1 mutation
(70 available)
Rpgrtm1Tili mutation
(0 available);
any
Rpgr mutation
(8 available)
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vision/eye
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• double mutants exhibit a disease phenotype (photoreceptor degeneration) indistinguishable from the single homozygous Rpgrip1 mutant
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nervous system
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• double mutants exhibit a disease phenotype (photoreceptor degeneration) indistinguishable from the single homozygous Rpgrip1 mutant
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrtm1Tili mutation
(0 available);
any
Rpgr mutation
(8 available)
Tg(CAG-Rpgr)mRDefWrght mutation
(0 available)
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vision/eye
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• by 2 months of age, the inner segments of the retina are shortened
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• by 2 months of age, the outer segments of the retina are shortened
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• outer segments are disorganized with disruption of the conventional parallel arrangement of disc membranes and poorly defined outer segment morphologies; perimeters are undefined and disc diameters are greatly expanded
• stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
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• cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals
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• photoreceptor cell loss is seen by 2 months of age
• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
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• by 2 months of age, mutants show a decrease in the number of nuclei in the outer nuclear layer
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nervous system
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• by 2 months of age, the inner segments of the retina are shortened
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• by 2 months of age, the outer segments of the retina are shortened
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• outer segments are disorganized with disruption of the conventional parallel arrangement of disc membranes and poorly defined outer segment morphologies; perimeters are undefined and disc diameters are greatly expanded
• stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
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• cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals
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• photoreceptor cell loss is seen by 2 months of age
• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrtm1Tili mutation
(0 available);
any
Rpgr mutation
(8 available)
Tg(CAG-Rpgr)mROrfWrght mutation
(0 available)
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vision/eye
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• mutants do not exhibit measurable photoreceptor degeneration at 3 months of age
• cone opsins are localized normally
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrtm1Tili mutation
(0 available);
any
Rpgr mutation
(8 available)
Tg(CAG-Rpgr)mRDefWrght mutation
(0 available)
Tg(CAG-Rpgr)mROrfWrght mutation
(0 available)
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vision/eye
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• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
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nervous system
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• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
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Analysis Tools