Analysis Tools
mortality/aging
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• homozygous mutant embryos die before E7.5; some residuals are detected in placentas without embryos at E7.5 and E8.5, but these are completely resorbed by E10.5
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Allele Symbol Allele Name Allele ID |
Herc2Gt(AR0530)Wtsi gene trap AR0530, Wellcome Trust Sanger Institute MGI:4346577 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygous mutant embryos die before E7.5; some residuals are detected in placentas without embryos at E7.5 and E8.5, but these are completely resorbed by E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 6 months of age, heterozygotes show a significant increase in rotarod falls relative to wild-type controls
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| N |
• electromyographical analysis of compound muscular action potential amplitudes in the medial gastrocnemius revealed normal neurotransmission efficacy in heterozygous mice
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• at 9 months of age, heterozygotes show loss of Purkinje cells in narrow gaps at the vermis/paravermis zones or in a greater extension at the cerebellar hemispheres
• lost Purkinje cells are substituted by glial Golgi-epithelial cells and degenerative accumulations are observed within the cytoplasm of the soma and the dendrites
• Purkinje cell cytoplasm contains a high number of lysosomes, electron-dense debris, and autophagosomes with varying degrees of evolution
• damaged cisterns of Golgi apparatus and numerous cisterns of the rough endoplasmic reticulum fused to the cytoplasmic face of the nuclear membrane are observed
• degenerative signs are detected at 2 and 9 months of age, with a slight increase in the older mice
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• Purkinje cell axons exhibit rounded thickenings resembling axonal torpedoes
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• at 9 months of age, Purkinje cell dendrites show numerous degenerative changes
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• at 9 months of age, Purkinje cells exhibit significant accumulation of lysosomes in the cytoplasm and principal dendrites
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• in addition to somatic labeling, p62 immunostaining is also detected within the dendritic trees and axonal torpedoes of Purkinje cells, indicating dysregulated autophagy in Purkinje cells
• EM analysis revealed significant accumulation of autophagic and lysosomal organelles in Purkinje cells cytoplasm; this is even more pronounced in principal Purkinje cell dendrites
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• in addition to somatic labeling, p62 immunostaining is also detected within the dendritic trees and axonal torpedoes of Purkinje cells, indicating dysregulated autophagy in Purkinje cells
• EM analysis revealed significant accumulation of autophagic and lysosomal organelles in Purkinje cells cytoplasm; this is even more pronounced in principal Purkinje cell dendrites
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• loss of Trp53 expression does not rescue the embryonic lethality of Herc2Gt(AR0530)Wtsi homozygous mice
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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 04/30/2024 MGI 6.23 |
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