Analysis Tools
mortality/aging
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• no homozygous embryos are obtained as early as E11.5 after backcrossing with C57BL/6 mice for six or more generations
(J:251778)
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Allele Symbol Allele Name Allele ID |
Ankfy1Gt(RRE069)Byg gene trap RRE069, BayGenomics MGI:4127244 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no homozygous embryos are obtained as early as E11.5 after backcrossing with C57BL/6 mice for six or more generations
(J:251778)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no homozygous embryos are obtained as the genetic background becomes increasingly BALB/c, especially after six generations of backcrossing
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fewer than expected homozygotes are produced from heterozygote crosses after backcrossing with C57BL/6 mice for 1-6 generations; degenerated embryos are occasionally seen as early as E11.5
• viable homozygotes are fertile and overtly normal with no detectable defects in neural stem/precursor cell development or histological defects in major organs at 2 months of age
• Background Sensitivity: all homozygotes are embryonic lethal after backcrossing with C57BL/6 mice for six or more generations
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit progressive motor deficits
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• paw clasping is first seen at about 12 weeks of age
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• gait differences are first seen at P20
• mice exhibit a motor weakness, drag their hindlegs and have a smaller stride length
• foot dragging is already present at 8 weeks of age, progresses with age and becomes increasingly more severe
• mice exhibit an increase in front/hind footprint overlap
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• 8 week old mice perform worse on the rotating rod than controls
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• spastic hind paw paralysis occurs in 24 week old mice
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• mice exhibit spastic paralysis
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• mice exhibit higher levels of apoptosis in the cerebellum and of Purkinje cells
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• mice show decreased body weight after 4 weeks of age
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• mice exhibit higher levels of apoptosis in the cerebellum and of Purkinje cells
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• the brain, especially the cerebellum, is smaller
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• Purkinje cell loss is seen at P60, with severe degeneration at 6 months of age, however the thickness of the molecular layer is not changed
• 6 month old mice exhibit severe DNA breaks in Purkinje cells, indicating apoptosis
• however, myelin sheaths in the corpus callosum, cerebellum and pons are normal
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• Purkinje cells grown in culture have fewer intermediate or terminal dendritic branches than wild-type cells, abundant distal spiny branchlets that emerge from the terminal dendritic branches, an increase in the number of axonal circular expansions, and a decrease in the total length and number of dendrites
• Purkinje cells have fewer intermediate and terminal collaterals but longer terminal branches
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• 24 week old mice show increased numbers of astrocytes in areas such as the vestibular nuclei, substantia nigra and cerebellum
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Charlevoix-Saguenay spastic ataxia | DOID:0050946 |
OMIM:270550 |
J:250135 | |
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 05/07/2024 MGI 6.23 |
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