Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Uqcrfs1tm1Ctm mutation
(0 available);
any
Uqcrfs1 mutation
(19 available)
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pigmentation
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• around 4 to 7 months of age, mice develop dark patches in the dorsal brown coat
• with age these patches spread to fill almost all of the dorsal coat but the color of the ventral coat does not change
• patches eventually turn grey
• treatment with N-acetyl cysteine for 60 days failed to prevent the color change
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integument
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• around 4 to 7 months of age, mice develop dark patches in the dorsal brown coat
• with age these patches spread to fill almost all of the dorsal coat but the color of the ventral coat does not change
• patches eventually turn grey
• treatment with N-acetyl cysteine for 60 days failed to prevent the color change
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Allelic Composition |
Uqcrfs1tm1Ctm/Uqcrfs1+
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Genetic Background |
Not Specified |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Uqcrfs1tm1Ctm mutation
(0 available);
any
Uqcrfs1 mutation
(19 available)
|
|
|
pigmentation
|
• around 4 to 7 months of age, mice develop dark patches in the dorsal brown coat
• with age these patches spread to fill almost all of the dorsal coat but the color of the ventral coat does not change
• treatment with N-acetyl cysteine for 60 days failed to prevent the color change
|
integument
|
• around 4 to 7 months of age, mice develop dark patches in the dorsal brown coat
• with age these patches spread to fill almost all of the dorsal coat but the color of the ventral coat does not change
• treatment with N-acetyl cysteine for 60 days failed to prevent the color change
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Camk2a-cre)#Szi mutation
(0 available)
Uqcrfs1tm1Ctm mutation
(0 available);
any
Uqcrfs1 mutation
(19 available)
|
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mortality/aging
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• sudden death between 3 and 3.5 months of age
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growth/size/body
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• mutants weight less than littermate controls, especially females
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behavior/neurological
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• decrease in rotarod performance at 2 months of age, with a rapid decline such that mutants are unable to perform the test 15 days later
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• lower nocturnal ambulatory movement than controls
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cellular
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• mutants exhibit 43% and 40% of mitochondrial respiratory complex III (CIII) activity of control levels in cortex and hippocampus, respectively, at 1 month of age and 25% and 14% of control levels in cortex and hippocampus, respectively, at 110 days of age
• mutants exhibit an increase in enzymatic activity of mitochondrial respiratory complex IV (CIV) and citrate synthase of 114% and 115%, respectively, at 2.5 months of age in the cortex
• mutants exhibit an increase in enzymatic activity of CIV and citrate synthase to 120% and 121% of control values, respectively, in the hippocampus
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• the ratio of ND1 to actin is higher in mutants at 3 months of age and there is a slight increase in mitochondrial proteins, indicating evidence of mitochondrial proliferation at this time
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nervous system
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• neuronal cell death in the somatosensory cortex at 3 months of age right before their death, but not earlier
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• mutants show oxidative damage in the piriform cortex by 1 month of age and neuronal cell death after 3 months of age
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• mutants exhibit progressive encephalopathy, showing lesions in the piriform area at 66 days of age, which worsen and extend to posterior parts of the brain within 18 days
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• mutants consistently show neuronal cell death in the somatosensory cortex, piriform cortex and hippocampus at 3 months of age right before their death, but not earlier
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• neuronal cell death in the hippocampus at 3 months of age right before their death, but not earlier
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• mutants exhibit a slight increase in GFAP immunoreactivity in the cortex, hippocampus, and piriform cortex at 3-3.5 months of age, indicating reactive glia
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homeostasis/metabolism