Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ugt8atm1Pop mutation
(2 available);
any
Ugt8a mutation
(28 available)
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nervous system
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• loss of axoglial junctions
• paranodal transverse septa are absent
• disorganized and misoriented microtubules
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• large numbers of axonal swellings on Purkinje cells
• accumulation of mitochondria in axonal swellings
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ugt8atm1Pop mutation
(2 available);
any
Ugt8a mutation
(28 available)
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mortality/aging
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• some mice died between 18-30 days of age while others survived past 90 d of age
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behavior/neurological
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• onset between 16-20 days of age; apparent at rest, but more pronounced during movement
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• mice displayed mild ataxia at 12-14 days of age
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• mice exhibited jerking movement at 12-14 days of age
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• abnormal splaying and dragging of hindlimbs with clenched paws; progressive loss of hindlimb function leading to loss of locomotor ability by 60 d of age
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growth/size/body
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• mice weighed 33-66% less than heterozygous and wild-type littermates
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homeostasis/metabolism
immune system
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N |
• normal natural killer T cell development and function
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nervous system
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N |
• normal myelin ultrastructure; no vacuolar degeneration observed in PNS myelin
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• compact myelin displayed at 24 d of age
• decrease in thickness of dorsal spinal white matter myelin
• 30% decrease in mean thickness of ventral spinal white matter myelin
• myelin splitting evident in mice 24 d of age, progression with age
• vacuolization evident in the ventral region of the spinal cord in mice 24 d of age, progression with age
• abnormal node and paranode formation
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• associated with increased distribution of potassium channel, extending through internodal region
(J:58935)
• 50% reduction in compound action potential amplitude; 30-40% reduction in conductance velocity of sciatic nerve
(J:78426)
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Allelic
Composition |
Ugt8atm1Pop/Ugt8a+
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Genetic
Background |
involves: 129P2/OlaHsd * C57BL/6 |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ugt8atm1Pop mutation
(2 available);
any
Ugt8a mutation
(28 available)
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nervous system
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• mice exhibit reduced numbers of oligodendrocytes compared to in wild-type mice
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• mice exhibit progressive neuropathy similar to in Aspanur7 homozygotes
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• at P21, mice exhibit a 40% decrease in phosphatidyl ethanolamine in myelin compared to in wild-type mice
• at P21, normal fatty acid-containing Galc cerebroside is reduced 70% compared to in wild-type mice
• however, the level of hydroxyl fatty acid-containing Galc cerebroside is normal
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behavior/neurological
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• at P42 to P56, mice exhibit a 50% decreased in latency to fall on a rotarod compared to wild-type mice
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Analysis Tools