Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
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mortality/aging
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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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behavior/neurological
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• variable penetrance
• cerebellar ataxia with an unsteady gait and consistent falling
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growth/size/body
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• fully penetrant hyperpigmentation of the ears
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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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pigmentation
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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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hematopoietic system
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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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nervous system
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• reduction in the number of proliferating cells and increase in apoptosis at P3
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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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integument
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• fully penetrant hyperpigmentation of the ears
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• fully penetrant hyperpigmentation of the tail
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limbs/digits/tail
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• fully penetrant hyperpigmentation of the tail
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immune system
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• 14% of wild-type numbers in affected mice
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craniofacial
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• fully penetrant hyperpigmentation of the ears
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hearing/vestibular/ear
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• fully penetrant hyperpigmentation of the ears
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cellular
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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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homeostasis/metabolism
endocrine/exocrine glands
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
Trp53tm1Tyj mutation
(12 available);
any
Trp53 mutation
(232 available)
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behavior/neurological
N |
• motor coordination is similar to Trp53 heterozygous controls
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pigmentation
hematopoietic system
N |
• no bone marrow deficiencies are detected
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nervous system
N |
• no cerebellar deficiencies are detected
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integument
limbs/digits/tail
Allelic Composition |
Rpl27aSfa/Rpl27a+ Trp53tm1Tyj/Trp53+
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Genetic Background |
involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6J |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
Trp53tm1Tyj mutation
(12 available);
any
Trp53 mutation
(232 available)
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mortality/aging
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• prolonged survival compared to mice heterozygous for the Trp53 allele alone
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neoplasm
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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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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
Trp53tm1Tyj mutation
(12 available);
any
Trp53 mutation
(232 available)
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pigmentation
N |
• foot pad hyperpigmentation is not seen unlike in mice wild-type for Trp53
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
Trp53tm1Tyj mutation
(12 available);
any
Trp53 mutation
(232 available)
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
In(11Trp53;11Wnt3)8Brd mutation
(1 available);
any
In(11Trp53;11Wnt3)8Brd mutation
(4 available)
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
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normal phenotype
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• mice do not display ataxia or foot pad hyperpigmentation
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Allelic Composition |
Mdm2tm1Bay/Mdm2+ Rpl27aSfa/Rpl27a+
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Genetic Background |
involves: 129S7/SvEvBrd * C57BL/6J |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdm2tm1Bay mutation
(1 available);
any
Mdm2 mutation
(54 available)
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mdm4tm1Glo mutation
(0 available);
any
Mdm4 mutation
(191 available)
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpl27aSfa mutation
(0 available);
any
Rpl27a mutation
(52 available)
Tg(Dct-lacZ)#Ove mutation
(0 available)
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pigmentation
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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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integument
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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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limbs/digits/tail
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• hyperpigmentation of the tail
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