vision/eye
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• mice do not exhibit retinal schisis and show normal ERGs
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Allele Symbol Allele Name Allele ID |
Rs1tm2.1Rom targeted mutation 2.1, Carmelo Romano MGI:6404921 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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• mice do not exhibit retinal schisis and show normal ERGs
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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• activated Muller cell processes are seen across the outer nuclear layer
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• density of astrocyte processes is increased, reflecting either increased numbers or activation of the cells
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• calbindin+ horizontal cells extend their neurites into the outer nuclear layer compared to their normal termination in the outer plexiform layer in wild-type mice
• aberrant sprouting is also seen in rod bipolar cells and PKC+ rod bipolar cell dendrites are seen to extend toward and into the outer nuclear layer
• cone bipolar cell projections into the inner nuclear layer are seen
• ectopic outer nuclear layer sprouting of cone bipolar cells
• numerous dendritic processes of synaptotagmin II+ bipolar cells invade the outer nuclear layer indicating aberrant sprouting
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• cone pedicles are malformed
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• cone outer segments are shortened
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• both excitatory and inhibitory inputs show aberrant activity in retinal ganglion cells
• retinal ganglion cells (RGCs) show an increase in spontaneous firing rate, in both ON- and OFF-type RGCs
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• outer retinal thickness is reduced from P15 to P21
• retinal phenotypes are less severe than in Rs1tm1.1Rom and Rs1tm3.1Rom hemizygous males
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• activated Muller cell processes are seen across the outer nuclear layer
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• schisis severity peaks at P18
• retinal schisis is apparent until later adult stages when it becomes less apparent
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• cone pedicles are malformed
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• cone outer segments are shortened
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• the b-wave is reduced more than the a-wave, indicating a negative ERG waveform
• the light-adapted cone ERG is reduced in amplitude at P15, P24, and 10 weeks of age
• dark-adapted ERG is reduced in amplitude
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• dark-adapted a-wave amplitude is reduced at P15, P24, and 10 weeks of age
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• light-adapted b-wave amplitude is reduced at P15, P24, and 10 weeks of age
• dark-adapted b-wave amplitude is reduced at P15, P24, and 10 weeks of age with the greatest ERG b-wave reduction at P15 and P24
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• retinal ganglion cell electrophysiology shows elevated activity in the absence of a visual stimulus and reduced signal-to-noise ratios in response to light stimuli
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
X-linked juvenile retinoschisis 1 | DOID:0060763 |
OMIM:312700 |
J:285517 |
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 08/02/2024 MGI 6.24 |
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