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Allele Symbol Allele Name Allele ID |
Tg(Pcp2-tTA)3Horr transgene insertion 3, Harry T Orr MGI:3580157 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 N |
• mice in the absence of doxycycline (Nlgn3 expression is on) exhibit rescue of the neurological phenotypes seen in Nlgn3 single hemizygotes
• mutants raised in the presence of doxycycline (Nlgn3 expression is off) and then the doxycycline is removed to allow for Nlgn3 reexpression, exhibit removal of ectopic synapses from the distal Purkinje cell dendritic tree
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by 12 weeks of age, but not at 6 weeks of age, mutants start to show signs of ataxia by home cage behavior
• by 32 weeks of age, mutants exhibit overt ataxia
• treatment with doxycycline at 12 or at 32 weeks of age to turn off expression of the gene results in improvement in home cage behavior
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• 6 week old mutants exhibit a moderate deficiency on the accelerating rotarod which gets worse at 12 weeks of age and by 32 weeks of age, mutants are unable to stay on the accelerating rotarod
• treatment with doxycycline at 6, 12 or at 32 weeks of age to turn off expression of the gene results in a partial improvement in rotarod performance, but only after an extended period of dox treatment
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• 6 week old mutants exhibit a mild Purkinje cell atrophy that includes cytoplasmic vacuoles, some dendritic pruning, heterotypic Purkinje and nuclear inclusions
• by 12 and 32 weeks of age, Purkinje cell atrophy is very extensive
• treatment with doxycycline at 6, 12 or at 32 weeks of age to turn off expression of the gene results in improvement of Purkinje cell pathology
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• at 12 weeks of age, mutants exhibit a decrease in dendritic arborization and distribution of spines along the remaining dendrites
• treatment with doxycycline at 12 or at 32 weeks of age to turn off expression of the gene results in increased arborization of the Purkinje cell dendritic tree
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spinocerebellar ataxia type 1 | DOID:0050954 |
OMIM:164400 |
J:95453 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show a decreased latency to fall off the accelerating rod
• in the walking beam test, mice exhibit an increase in the number of slips of a hind leg per crossing of the beam
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• at P12, in cerebellum lobule 7, the number of Purkinje cells is reduced and cells are not properly arranged in the Purkinje cell layer but are dispersed in the molecular layer
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• at 3 months of age, gaps are seen in the Purkinje cell layer of cerebellum lobule 7, suggesting Purkinje cell loss in this area
• however, mice do not show overt Purkinje cell loss in other areas of the cerebellum
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• Purkinje cells exhibit a highly abnormal dendritic tree in organotypic slice cultures; the dendritic tree is reduced in size and branch development and the primary dendritic branches appear thickened and have only short secondary side branches
• juvenile mutants exhibit Purkinje cells with dendritic abnormalities in the area of lobule 7 of the cerebellum, most pronounced at P12 and P18, with mild changes in the area in adults
• at P12, stem dendrites appear thickened and are shortened and the distal dendrites are missing or reduced in size
• at P18, size of dendrites increases, however dendrites are still thickened
• at P28, there is a further increase in dendritic size, but dendrites are still thicker and devoid of small side branches
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• at P12, in cerebellum lobule 7, the number of Purkinje cells is reduced
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spinocerebellar ataxia type 14 | DOID:0050964 |
OMIM:605361 |
J:218354 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show deficits on the accelerating rotarod at 26 weeks of age but not at earlier time points
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• mice exhibit alterations in gait, with increases in both step angle variance and stance width
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• cerebellar N-acetylaspartate concentrations decline with age
• progressive cerebellar degeneration
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• mice exhibit altered metabotropic glutamate receptor 1alpha localization at Purkinje cell dendritic spines
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• thinning of the cerebellar molecular layer
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• mice show a 35% decrease in the metabotropic glutamate receptor 1alpha-mediated response to parallel fiber stimulation but little change in AMPA responsiveness compared with controls
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• the metabotropic glutamate receptor 1alpha-mediated long term potentiation (LTP) is absent
• mice show reduced amplitude and LTP of long-latency patches
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spinocerebellar ataxia type 5 | DOID:0050882 |
OMIM:600224 |
J:215593 | |
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 04/09/2024 MGI 6.23 |
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