Analysis Tools
behavior/neurological
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• by 8 months of age homozygotes retract the limbs to the abdomen when raised by the tail
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• although grip strength and gait are normal and prior to 6 months of age performance on rotarod tests is normal, by 8 months of age rotarod performance diminished and performance on beam walking tests is also diminished
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• less rearing than controls in an open field test
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nervous system
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• although normal at 6 weeks of age, by 8 months of age there is a significant decrease in Purkinje cells but no indication of increased apoptosis in these cells at this timepoint nor any indication of abnormal myelination
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homeostasis/metabolism
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• at 6 weeks of age there is a decrease in sphingomyelin in the cerebrum and at 8 months of age a decrease in both sphingomyelin and sphingosine in both the cerebrum and cerebellum
• C18:1-HexCer is increased in the cerebrum and cerebellum at 6 weeks of age and to a greater degree at 8 months of age
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• by 6 weeks of age there is an increase in both unsaturated and saturated long-chain fatty acids (C18:1, C20:1, C16:0, C18:0, C20:0) in the cerebellum and to a lesser extent in the cerebrum and by 8 months of age this accumulates further and there is an increase in very long-chain ceramides (C22 and C22:1-ceramide) in the cerebellum but not cerebrum
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reproductive system
| N |
• no defects in male or female reproduction
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mortality/aging
| N |
• heterozygous intercrosses yield the expected Mendelian ratio of homozygotes indicating no embryonic or perinatal death and no premature death of homozygotes is reported up to 12 months of age
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