Analysis Tools|
Allele Symbol Allele Name Allele ID |
Atriptm1.1Pof targeted mutation 1.1, Pierre-Olivier Frappart MGI:6501143 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• retinas show normal morphology, lamination, and an intact outer nuclear layer, and mice exhibit a normal optomotor response
• mice show rescue of the increased apoptosis seen in the retinas of single homozygous Atrip conditional mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show impaired eye growth resulting in mild microphthalmia
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• retinas show rosette formation and ectopic deposits of laminin, a component of the basal lamina
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• retinal progenitor cells accumulate DNA damage and undergo apoptosis during embryogenesis
• alteration in retinal progenitor cell proliferation is seen in late postnatal stages and neurogenesis is mildly disturbed
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• severe disorganization of retinal lamination in postnatal stages
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• extensive neuronal degeneration in the retina, particularly of photoreceptor neurons, leading to complete loss of the outer nuclear layer in the periphery of the retina
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• complete loss of the outer nuclear layer in the periphery of the retina
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• a subtle increase in the proportion of mitotic and S-phase cells is seen in the retinas at P4, indicating a mild dysregulation of cell proliferation
• however, no difference in the proportion of mitotic cells is seen in the retinas at E17.5 or P2
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• retinas show an increase in apoptosis at E17.5 and a modest increase at P2 and P4, but no changes at E12.5
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• analysis of the optomotor response shows severe visual acuity impairment
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• extensive neuronal degeneration in the retina, particularly of photoreceptor neurons, leading to complete loss of the outer nuclear layer in the periphery of the retina
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• retinas show an increase in apoptosis at E17.5 and a modest increase at P2 and P4, but no changes at E12.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Seckel syndrome | DOID:0050569 |
OMIM:PS210600 |
J:297493 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• ~80% reduction in eye volume at age P21
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• severe developmental growth impairment at age P7
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• severe developmental growth impairment at age P7
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• severe developmental growth impairment at age P7
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• in E17.5 embryos
• dysregulated DNA damage response (DDR)
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• abnormal organization of transition zone at age P7
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• lack of organelle-free zone (OFZ) in fiber cells at age P7
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• ~50% reduction in eye volume at age P7
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| N |
• viable; mice born at expected Mendelian ratio
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• mice die around age P9
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• dysregulated DNA damage response (DDR)
• normal cell cycle and proportion of mitotic cells of lens progenitor cells in E17.5 embryos
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• increased number of mitotic defects in lens progenitor cells in E15.5 embryos
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• in E17.5 embryos
• dysregulated DNA damage response (DDR)
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• lower body mass at birth
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• at age P13
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• retinas show normal lamination and outer nuclear layer and mice exhibit normal visual acuity at 7 months of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• ~50% reduction in eye volume at age P7
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• at age P13
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• at age P13
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• dysregulated DNA damage response (DDR) of lens progenitor cells in E15.5 embryos
• normal cell cycle and proportion of mitotic cells of lens progenitor cells in E15.5 embryos
• no lens epithelium apoptosis in E15.5 embryos
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• increased number of mitotic defects in lens progenitor cells in E15.5 embryos
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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 12/10/2024 MGI 6.24 |
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