Phenotypes associated with this allele
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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)
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vision/eye
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• reduced glutamylation of RPGR ORF15 isoform at age P20
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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)
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Ultrastructural examination of Rpgrip1tm1Tili/Rpgrip1tm1Tili mouse photoreceptors
vision/eye
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• outer segment disks are grossly oversized by P15 and appear disorganized; stacks of disk membranes are frequently arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
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• near complete loss of photoreceptor cells by 3 months of age
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• at 20-30 days of age, cone ERGs show reduced amplitude
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• at 20-30 days of age, dark-adapted (rod) ERG analysis shows a greatly reduced maximum amplitude and a reduced sensitivity in mutants
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nervous system
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• outer segment disks are grossly oversized by P15 and appear disorganized; stacks of disk membranes are frequently arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
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• near complete loss of photoreceptor cells by 3 months 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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