Analysis Tools|
Allele Symbol Allele Name Allele ID |
Rpl27aSfa sooty foot ataxia MGI:5140351 |
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| Summary |
10 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 |
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• minimally affected mice (near normal body weight and minimal ataxia) all died less than 20 days after treatment with a sub-lethal (for wild-type controls) dose of gamma irradiation
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• about 20% of affected mice die in early postnatal development
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• variable penetrance
• cerebellar ataxia with an unsteady gait and consistent falling
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• fully penetrant hyperpigmentation of the ears
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• variable penetrance
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• seriously affected mice are unable to undertake the rapid growth spurt that normally occurs 19 - 30 days after birth
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• fully penetrant hyperpigmentation of the tail, feet, ears and genital areas
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• fully penetrant hyperpigmentation of the ears
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• fully penetrant hyperpigmentation of the tail
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• significant increase in proliferation
• mice with the lowest HSC numbers have the highest proportion of proliferating HSCs
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• thin, watery blood in severely affected mice
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• variable penetrance
• bone marrow sections show hypocellularity indicative of aplastic anemia
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• bone marrow sections show hypocellularity indicative of aplastic anemia
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• 46% of wild-type numbers in affected mice
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• 30% of wild-type numbers in affected mice
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• 14% of wild-type numbers in affected mice
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• about 40% of wild-type numbers in severely affected mice
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• in severely affected mice
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• significant increase in bone marrow cell apoptosis in some mice
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• reduction in the number of proliferating cells and increase in apoptosis at P3
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• small EGL at P2
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• severely disrupted layers at 12 -14 weeks
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• Purkinje neurons are disorganized in the cerebellum at 12 -14 weeks of age
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• found ectopically located throughout the cerebellum at 12 -14 weeks of age
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• pronounced reduction in cell numbers at 12 - 14 weeks of age
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• fully penetrant hyperpigmentation of the ears
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• fully penetrant hyperpigmentation of the tail
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• fully penetrant hyperpigmentation of the tail
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• 14% of wild-type numbers in affected mice
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• fully penetrant hyperpigmentation of the ears
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• fully penetrant hyperpigmentation of the ears
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• significant increase in proliferation
• mice with the lowest HSC numbers have the highest proportion of proliferating HSCs
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• minimally affected mice (near normal body weight and minimal ataxia) all died less than 20 days after treatment with a sub-lethal (for wild-type controls) dose of gamma irradiation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• motor coordination is similar to Trp53 heterozygous controls
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| N |
• no bone marrow deficiencies are detected
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| N |
• no cerebellar deficiencies are detected
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• prolonged survival compared to mice heterozygous for the Trp53 allele alone
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• compared to mice heterozygous for the Trp53 allele alone
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• increase in tumor type multiplicity compared to mice heterozygous for the Trp53 allele alone
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• compared to mice heterozygous for the Trp53 allele alone
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• tumors appear at about 13 months of age compared to about 9 months of age in mice heterozygous for the Trp53 allele alone
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• foot pad hyperpigmentation is not seen unlike in mice wild-type for Trp53
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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 |
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• mice do not display ataxia or foot pad hyperpigmentation
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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 |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• dramatic increase in epidermal melanocyte numbers with increased deposition of melanin granules in the foot pads and tail
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• dramatic increase in epidermal melanocyte numbers with increased deposition of melanin granules
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• hyperpigmentation of the tail
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• dramatic increase in epidermal melanocyte numbers with increased deposition of melanin granules in the foot pads and tail
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• hyperpigmentation of the tail
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• hyperpigmentation of the tail
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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 12/10/2024 MGI 6.24 |
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