Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1tm1Hzo mutation
(1 available);
any
Atxn1 mutation
(50 available)
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mortality/aging
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• mice die before 60 weeks of age
(J:119643)
• mice exhibit premature lethality
(J:177841)
• however, exercise improves survival
(J:177841)
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nervous system
behavior/neurological
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• impaired fear conditioning
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• on a rotarod and dowel test
(J:177841)
• mice exhibit increased latency to cross a dowel rod and walk off the rod fewer times than wild-type mice
(J:198661)
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growth/size/body
Allelic
Composition |
Atxn1tm1Hzo/Atxn1+
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Genetic
Background |
involves: 129S7/SvEvBrd * C57BL/6 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1tm1Hzo mutation
(1 available);
any
Atxn1 mutation
(50 available)
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mortality/aging
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• premature death first occurs between 35 to 45 weeks of age
• none of the mice survive past 50 weeks of age
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growth/size/body
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• growth retardation starts at 8 weeks of age
• mice weigh 20% less than wild-type littermates by 11 weeks of age
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• mice start losing weight after 20 weeks of age
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behavior/neurological
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• in a context fear test, mice display significantly less freezing to the conditioned stimulus 24 hours after the training period but not 1 hour after
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• 7-8 week old mice take more time and swim further to locate a submerged but visible platform in a morris water test during the first 6 trials
• mice perform as wells as wild-type controls in later trials
• 7-8 week old mice take more time and swim further to locate a hidden platform in a morris water test regardless of trial number
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• mice have a clasping phenotype when lifted by the tail starting at 9 weeks of age
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• evident by 20 weeks of age
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• retention time in a rotarod test is impaired by about half for both 5 and 7 week old mice
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• evident by 20 weeks of age
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nervous system
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• brain weight is significantly reduced by 16 weeks of age
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• all ventricles are dilated by 40 weeks of age
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• there is a reduction in dendritic arbor of cerebellar Purkinje neurons from mice 6 to 11 weeks of age
• this reduction in dendritic arbor leads to a reduction in membrane capacitance
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• significantly fewer Purkinje cells are present in 40-week old mice compared to wild-type littermates
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• ubiquitinated neuronal intranuclear inclusions (NI) are present in CA1 hippocampal neurons by 7 weeks of age
• NI are also present in cortical neurons and thalamic nuclei by 7 weeks of age
• NI are present in numerous parts of the brain during the endstage of disease
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• EPSP magnitude is significantly decreased in the hippocampus 90 minutes after high-frequency stimulation
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• hippocampus LTP is significantly reduced in 24 week old mice
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muscle
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• muscle wasting is evident by 20 weeks of age
• atrophy of lower limb muscles occurs by 30 weeks of age
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skeleton
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• is observed by 30 weeks of age
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mortality/aging
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• not as severe as in Atxn1tm1Hzo homozygotes
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nervous system
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N |
• mice exhibit improved Purkinje cell count compared with Atxn1tm1Hzo homozygotes
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• as in Atxn1tm1Hzo homozygotes
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behavior/neurological
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N |
• mice exhibit improved activity, coordination, and fear conditioning compared with Atxn1tm1Hzo homozygotes
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growth/size/body
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N |
• weight loss observed in Atxn1tm1Hzo homozygotes is rescued
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1tm1Hzo mutation
(1 available);
any
Atxn1 mutation
(50 available)
NlkGt(RRJ297)Byg mutation
(0 available);
any
Nlk mutation
(46 available)
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behavior/neurological
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N |
• unlike Atxn1tm1Hzo heterozygotes, mice exhibit normal performance on a dowel rod walking test
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nervous system
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N |
• mice exhibit improved complexity of fine dendritic arbors and Purkinje cell soma at 38 to 39 weeks of age and molecular layer thickness compared with Atxn1tm1Hzo heterozygotes
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mortality/aging
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• about 73% of pups die within 3 h of birth
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homeostasis/metabolism
growth/size/body
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• in about 45% of embryos
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nervous system
mortality/aging
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• less than 20% of pups die within 3 h of birth
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homeostasis/metabolism
respiratory system
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• air space enlargement is more severe than in mice homozygous for the Atxn1l mutation alone
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growth/size/body
nervous system
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• at birth in 3 of 10 pups
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• at birth in 3 of 10 pups
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mortality/aging
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• less than 20% of pups die within 3 h of birth
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homeostasis/metabolism
growth/size/body
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1ltm1.1Hzo mutation
(0 available);
any
Atxn1l mutation
(24 available)
Atxn1tm1Hzo mutation
(1 available);
any
Atxn1 mutation
(50 available)
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mortality/aging
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• mice die before 70 weeks of age compared to 60 weeks for Atxn1tm1Hzo heterozygotes
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nervous system
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N |
• Purkinje cell loss observed in Atxn1tm1Hzo heterozygotes is rescued
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• Purkinje cell dendrites are more complex than in Atxn1tm1Hzo heterozygotes
• atrophy of the Purkinje cell soma is improved compared to in Atxn1tm1Hzo heterozygotes
• Purkinje cells exhibit an increase in inclusions compared to in Atxn1tm1Hzo heterozygotes
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• mice exhibit partial rescue of neuron loss observed in Atxn1tm1Hzo heterozygotes
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behavior/neurological
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N |
• mice exhibit suppression of the ataxia observed in Atxn1tm1Hzo heterozygotes
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Analysis Tools