Allele Symbol Allele Name Allele ID |
Rreb1Sao shaky all over MGI:5817430 |
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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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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• Purkinje cells have fewer lysosomes and autophagosomes and show accumulating protein inclusions
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• homozygotes display apoptotic Purkinje cell degeneration beginning at 4 weeks of age, which progresses rostrally to caudally with an average of only 16% of Purkinje cells surviving at 1 year
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• heterozygotes display apoptotic Purkinje cell degeneration beginning at 6 months of age and approximately 72% of Purkinje cells survive at 1 year
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• histology of two homozygotes at 34 weeks of age found severe Purkinje cell loss
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• double homozygous mothers on the NOD background often develop rectal prolapse after bearing 1 to 3 litters
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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 08/21/2024 MGI 6.24 |
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