Analysis Tools|
Allele Symbol Allele Name Allele ID |
Rpgrtm1Tili targeted mutation 1, Tiansen Li MGI:2386674 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mislocalization of S- and M-opsins to cell body and synaptic layer at age P20-40
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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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Light micrographs of retinal sections of wild-type and Rpgrtm1Tili/Rpgrtm1Tili mice.
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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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• connecting cilia are normal
• retinal degeneration apparently under way by 2 months of age
• reduction in photoreceptor nuclear layer thickness
• newly formed disk membranes are disorganized
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• retinal function normal at 30 days
• abnormal function appears in conjunction with morphological degeneration
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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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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinitis pigmentosa 3 | DOID:0110414 |
OMIM:300029 |
J:61371 | |
| X-linked cone-rod dystrophy 1 | DOID:0111008 |
OMIM:304020 |
J:61371 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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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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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| X-linked cone-rod dystrophy 1 | DOID:0111008 |
OMIM:304020 |
J:87299 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• double mutants exhibit a disease phenotype (photoreceptor degeneration) indistinguishable from the single homozygous Rpgrip1 mutant
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• double mutants exhibit a disease phenotype (photoreceptor degeneration) indistinguishable from the single homozygous Rpgrip1 mutant
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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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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• 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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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinitis pigmentosa 3 | DOID:0110414 |
OMIM:300029 |
J:181417 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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N |
• mutants do not exhibit measurable photoreceptor degeneration at 3 months of age
• cone opsins are localized normally
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
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• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/19/2024 MGI 6.24 |
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