Analysis Tools|
Allele Symbol Allele Name Allele ID |
Rhotm1Phm targeted mutation 1, Peter Humphries MGI:2181812 |
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| Summary |
8 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 6 weeks of age electroretinograms show normal cone responses but no rod driven responses, and both the light and dark adapted electroretinograms show small oscillatory potential power spectra with peak frequencies of 70 to 90 Hz
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 48 days, the retinal outer segment and retinal inner segment are thinned further than at earlier time points unlike in wild-type mice
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• at 27 days
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• the retinal outer segment is thinner than in wild-type or heterozygous mice
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• at 28 days, the outer nuclear layer (ONL) is 8 to 10 nuclei thick compared to 10 to 12 nucleic in wild-type mice
• at 48 days, the ONL is reduced to half of the width at 24 days
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• degeneration is complete by 3 months
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• light-adapted mice exhibit a somewhat reduced cone response without an a-wave unlike in wild-type mice
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• dark-adapted mice exhibit no electroretinography responses below -0.3 cd/m2 and while small b-waves are generated at high intensities no a-wave is observed
• b-wave response is narrower with a faster time course than in wild-type mice and lacks most of the oscillatory potential observed on the leading edge of the dark-adapted b-waves in wild-type mice
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• at 48 days, the retinal outer segment and retinal inner segment are thinned further than at earlier time points unlike in wild-type mice
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• at 27 days
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• the retinal outer segment is thinner than in wild-type or heterozygous mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinitis pigmentosa 4 | DOID:0110372 |
OMIM:613731 |
J:38098 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 4 months
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• at 4 months
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• at 4 months
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• at 4 months
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• at 4 months
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal outer nuclear layer thickness, retinal outer segment length, photoreceptor numbers and rhodopsin complement
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• at 16 weeks, mice exhibit reduced maximal a-wave amplitude and increased a-wave threshold compared with Rhotm1Phm heterozygotes
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• mice exhibit loss of rod sensitivity with rod photoreceptor desensitization and faster response time to peak compared with Rhotm1Phm heterozygotes
• rods exhibit a partially light-adapted phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal rod outer segments and minimal rod cell loss
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• at 24 weeks, mice exhibit reduced maximal a- and b-wave amplitude and increased a- and b-wave threshold compared with Rhotm1Phm heterozygotes
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• increased equivalent background light level
• rods exhibit a partially light-adapted phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice develop outer segments unlike Rhotm1Phm homozygotes
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• slower than in Rhotm1Phm homozygotes
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• 60% of normal at 14 weeks
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• slower than in Rhotm1Phm homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 9 months, some of the axon terminals of rod bipolar cells have retracted and/or appear swollen; the ribbon synapses are almost absent
• in contrast, the stratification pattern of cone bipolar cell axons and amacrine cell processes appear relatively unaffected
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• at PW5, many of the horizontal cell processes of mutant retinas show extensive sprouting into the ONL and INL
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• at 2 months, the double mutant retina exhibits a massive reduction of the outer nuclear layer, whereas the inner retina remains unaffected
• by 10 months, the outer retina has degenerated completely, whereas the inner retina still appears morphologically intact
• at later stages of retinal degeneration, the inner plexiform layer (IPL) is also affected
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• in double mutants, photoreceptor degeneration begins at ~PW4 and increases rapidly after PW7
• at PW10, the photoreceptor layer is reduced to one row of nuclei; by PW12, the entire ONL is missing in most parts of the retina
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• by PW4, the number of rod spherules is reduced to <50% of wild-type number
• double mutants have rod spherules with 2, 3, or more synaptic ribbons and larger numbers of postsynaptic elements
• at PW4, 45% of mutant rod spherules have 2 or more ribbons, whereas only 4% of wild-type shperules have more than 1 ribbon
• by PW5 and PW6, >80% of the surviving rod spherules contain 2 or more ribbons
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• double mutants exhibit a progressive degeneration of all photoreceptors within 3 months after birth
• notably, double mutants display normal expression of presynaptic markers and postsynaptic glutamate receptors in the outer plexiform layer (OPL) until postnatal week 7 (PW7)
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• at ~P35, scotopic ERGs confirm loss of both rod and cone-driven responses in double homozygotes
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• in double mutants, photoreceptor degeneration begins at ~PW4 and increases rapidly after PW7
• at PW10, the photoreceptor layer is reduced to one row of nuclei; by PW12, the entire ONL is missing in most parts of the retina
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• at 9 months, some of the axon terminals of rod bipolar cells have retracted and/or appear swollen; the ribbon synapses are almost absent
• in contrast, the stratification pattern of cone bipolar cell axons and amacrine cell processes appear relatively unaffected
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• at PW5, many of the horizontal cell processes of mutant retinas show extensive sprouting into the ONL and INL
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• by PW4, the number of rod spherules is reduced to <50% of wild-type number
• double mutants have rod spherules with 2, 3, or more synaptic ribbons and larger numbers of postsynaptic elements
• at PW4, 45% of mutant rod spherules have 2 or more ribbons, whereas only 4% of wild-type shperules have more than 1 ribbon
• by PW5 and PW6, >80% of the surviving rod spherules contain 2 or more ribbons
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• double mutants exhibit a progressive degeneration of all photoreceptors within 3 months after birth
• notably, double mutants display normal expression of presynaptic markers and postsynaptic glutamate receptors in the outer plexiform layer (OPL) until postnatal week 7 (PW7)
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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 12/17/2024 MGI 6.24 |
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