Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
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behavior/neurological
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• higher seizure threshold when treated with pentylenetetrazole (PTZ)
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• higher seizure threshold
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cellular
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• compared with C57BL/6J congenic for wildtype n-Tr20 from C57BL/6NJ, extracts from the cerebellum of C57BL/6J inbred mice have more ribosomal pausing at AGA codons and 1.6 times the pausing magnitude at AGA codons
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homeostasis/metabolism
nervous system
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• higher seizure threshold when treated with pentylenetetrazole (PTZ)
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• higher seizure threshold
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• mEPSC frequency increase in CA1 region hippocampal neurons
• normal mEPSC amplitude and kinetics in CA1 region hippocampal neurons
• normal paired-pulse ratio (PPR) in CA1 region hippocampal neurons
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• mEPSC frequency increase in CA1 region hippocampal neurons
• normal mEPSC amplitude and kinetics in CA1 region hippocampal neurons
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• reduced paired-pulse depression (PPD) at short interstimulus intervals in CA1 region hippocampal neurons
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behavior/neurological
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• mild increase in SWD incidence
• normal SWD duration (i.e. same as on other genetic background)
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nervous system
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• mild increase in SWD incidence
• normal SWD duration (i.e. same as on other genetic background)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gabrg2tm1Spet mutation
(3 available);
any
Gabrg2 mutation
(41 available)
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
Tg(n-TRtct5)574Slac mutation
(0 available)
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behavior/neurological
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• significant increase in SWD incidence
• normal SWD duration (i.e. same as on other genetic background)
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nervous system
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• significant increase in SWD incidence
• normal SWD duration (i.e. same as on other genetic background)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtpbp2tm1Ynim mutation
(0 available);
any
Gtpbp2 mutation
(37 available)
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
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nervous system
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• similar diminution of the cerebellum at 2 months of age is found as is found in nmf205 homozygotes and compound heterozygotes
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cellular
behavior/neurological
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• an unsteady gait can be observed in mutant mice at approximately 6-9 weeks of age
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• truncal ataxia evident at 6 weeks of age
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cellular
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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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mortality/aging
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• homozygotes die at 8 to 9 weeks of age
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nervous system
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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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vision/eye
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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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homeostasis/metabolism
normal phenotype
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• no neurodegeneration was observed
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nervous system
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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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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtpbp2nmf205 mutation
(1 available);
any
Gtpbp2 mutation
(37 available)
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
Tg(n-TRtct1)516Slac mutation
(0 available)
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nervous system
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N |
• no neurodegeneration in brain
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gtpbp2nmf205 mutation
(1 available);
any
Gtpbp2 mutation
(37 available)
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
Tg(n-TRtct2)557Slac mutation
(0 available)
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nervous system
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N |
• no neurodegeneration in brain
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
Tg(n-TRtct1)310Slac mutation
(0 available)
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behavior/neurological
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N |
• normal seizure threshold when treated with pentylenetetrazole (PTZ) [i.e. lower threshold than non-transgenic B6J mice, which carry the n-TRtct5m1J allele]
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
Tg(n-TRtct1)516Slac mutation
(0 available)
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behavior/neurological
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• normal seizure threshold when treated with pentylenetetrazole (PTZ) [i.e. lower threshold than non-transgenic B6J mice, which carry the n-TRtct5m1J allele]
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
Tg(n-TRtct2)529Slac mutation
(0 available)
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behavior/neurological
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• normal seizure threshold when treated with pentylenetetrazole (PTZ) [i.e. lower threshold than non-transgenic B6J mice, which carry the n-TRtct5m1J allele]
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
Tg(n-TRtct2)557Slac mutation
(0 available)
|
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behavior/neurological
|
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• normal seizure threshold when treated with pentylenetetrazole (PTZ) [i.e. lower threshold than non-transgenic B6J mice, which carry the n-TRtct5m1J allele]
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|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
n-TRtct5m1J mutation
(4 available);
any
n-TRtct5 mutation
(4 available)
Tg(n-TRtct5)574Slac mutation
(0 available)
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behavior/neurological
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N |
• normal seizure threshold in response to electrical stimulation or when treated with pentylenetetrazole (PTZ) [i.e. lower threshold than non-transgenic B6J mice, which carry the n-TRtct5m1J allele]
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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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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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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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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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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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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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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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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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Analysis Tools