Analysis Tools
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• an unsteady gait can be observed in mutant mice at approximately 6-9 weeks of age
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• between 3 and 4 weeks of age progressive apoptosis of neurons in the inner granule layer is found, between 5 and 8 weeks of age apoptosis of granule cells in the dentate gyrus, CA2 pyramidal neurons, and layer IV cortical neurons are found, and many neorons in the retina including photoreceptors and amacrine, horizontal, and ganglion cells degenerate during this time
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• the point mutation in n-Tr20 results in decreased levels of processed n-Tr20 and increased levels of immature n-Tr20 over time, particularly in the cerebellum, and the reduction in the available pool of this isodecoder results in ribosomal stalling at AGA codons, which is exacerbated in the absence of functional GTPBP2
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• homozygotes die at 8 to 9 weeks of age
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• between 3 and 4 weeks of age progressive apoptosis of neurons in the inner granule layer is found, between 5 and 8 weeks of age apoptosis of granule cells in the dentate gyrus, CA2 pyramidal neurons, and layer IV cortical neurons are found, and many neorons in the retina including photoreceptors and amacrine, horizontal, and ganglion cells degenerate during this time
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• increased pyknotic nuclei are found in pyramidal neurons in the CA2 but not CA1 region of the hippocuampus
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• progressive apoptosis of inner granule layer neurons is found between 3 and 4 weeks of age
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• degeneration of many neurons in the retina occurs by 2 months of age, including photoreceptors, amacrine cells, horizontal cells, and ganglion cells
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• the point mutation in n-Tr20 results in decreased levels of processed n-Tr20 and increased levels of immature n-Tr20 over time, particularly in the cerebellum, and the reduction in the available pool of this isodecoder results in ribosomal stalling at AGA codons, which is exacerbated in the absence of functional GTPBP2
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the progressive neuronal apoptosis that results in smaller cerebellum, hippocampus CA2 region, dentate gyrus, and degeneration in the retina of nmf205 homozygotes is also found in this compound heterozygote
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although the cerebellum is not identical to Gtpbp2 wild-type controls, this transgene, which has brain-specific expression of wild-type n-Tr20, rescues most of the nmf205 mutant phenotype such that at 6 months of age the neuronal death is greatly attenuated in the brain and retina
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with one allele of n-Tr20 from 129/SvImJ in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with one allele of n-Tr20 from A/J in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with one allele of n-Tr20 from AKR/J in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• although the cerebellum is not identical to Gtpbp2 wild-type controls, this transgene, which has brain-specific expression of wild-type n-Tr20, rescues most of the nmf205 mutant phenotype such that at 6 months of age the neuronal death is greatly attenuated in the brain and retina
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with one allele of n-Tr20 from C57BL/6NJ in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with one allele of n-Tr20 from CBA/J in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with one allele of n-Tr20 from DBA/2J in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with one allele of n-Tr20 from MA/MyJ in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• with one allele of n-Tr20 from NOD/ShiLtJ in an F2 population, nmf205 homozygotes do not display the neurological phenotype seen on a pure C57BL/6J background
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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 08/05/2025 MGI 6.24 |
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