Phenotypes associated with this allele
Allelic Composition |
Htttm5Mem/Htttm5Mem
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * CD-1 |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
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nervous system
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• the levels of both the endogenous excitotoxin quinolinic acid (QUIN) and its bioprecursor, 3-hydroxykynurenine (3-HK) are increased in the striatum beginning at 15 months of age, similarly to that seen in Huntington disease patients
(J:111237)
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• exhibit relocation of the mutant protein to the nucleus in medium sized spiny neurons and much later, the formation of morphologic nuclear inclusions (at around 10 months) and insoluble aggregate that are hallmarks of Huntington's Disease in humans
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• QUIN and 3-HK levels are increased in the cortex beginning at 15 months of age, as seen in patients with Huntington disease
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• between 8 and 12 weeks of age, striatal mitochondria develops resistance to calcium, becoming equally sensitive to calcium as cortical mitochondria, whereas in wild-type, striatal mitochondria is more sensitive to calcium than cortical mitochondria
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behavior/neurological
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• onset of persistent rubbing and irritability from 12 to 16 months of age
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• onset of clasping behavior from 12 to 16 months of age
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• onset of trembling from 12 to 16 months of age
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• onset of hypoactivity from 12 to 16 months of age
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
|
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behavior/neurological
N |
• mice do not exhibit hypoactivity or rearing in open field test that differs significantly from controls
• mice do not exhibit a deterioration in grip strength as compared to controls
• mice do not exhibit a decrease in climbing activity
• stride length, splay length and base are similar to controls
• dark preference in dark/light choice test is similar to controls
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• homozygous males perform better than wild type controls on rotarod test
• homozygous females perform slightly worse than controls at the oldest ages
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growth/size/body
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• decrease in body weight is decreased by 28 weeks in both genders
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nervous system
N |
• mice do not exhibit alterations in startle reflex or in prepulse inhibition
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Allelic Composition |
Htttm5Mem/Htt+
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * CD-1 |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
|
|
|
nervous system
|
• exhibit relocation of the mutant protein to the nucleus in medium sized spiny neurons and much later, the formation of morphologic nuclear inclusions and insoluble aggregate that are hallmarks of Huntington's Disease in humans, although at a slower rate than in homozygotes
|
cellular
N |
• Htt CAG repeat stability is normal
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nervous system
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• intranuclear accumulation of mutant huntingtin is delayed 5 months compared to in Htttm5Mem heterozygotes
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fan1em2Mem mutation
(0 available);
any
Fan1 mutation
(98 available)
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
|
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cellular
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• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
Mtmr10em1Mem mutation
(0 available);
any
Mtmr10 mutation
(33 available)
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cellular
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• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age
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Allelic Composition |
Htttm5Mem/Htt+ Rrm2bem1Mem/Rrm2b+
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
Rrm2bem1Mem mutation
(0 available);
any
Rrm2b mutation
(25 available)
|
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cellular
N |
• Htt CAG repeat stability is normal
|
Allelic Composition |
Htttm5Mem/Htt+ Ubr5em1Mem/Ubr5+
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
Ubr5em1Mem mutation
(0 available);
any
Ubr5 mutation
(117 available)
|
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cellular
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• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age
|
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
Ubr5em2Mem mutation
(0 available);
any
Ubr5 mutation
(117 available)
|
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cellular
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• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age
|
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fan1em1Mem mutation
(0 available);
any
Fan1 mutation
(98 available)
Htttm5Mem mutation
(2 available);
any
Htt mutation
(179 available)
|
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cellular
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• expansion of the Htt CAG triplet repeats in striatum and liver at 5 months of age
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• in response to mitomycin C in embryonic fibroblasts
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