Analysis Tools
mortality/aging
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• about 70% of homozygous mice die within 24 hours of birth
• Background Sensitivity: the penetrance of lethality is decreased on a 129S6 background (70%) compared to a C57BL/6 background (100%)
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homeostasis/metabolism
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• circulating triglyceride levels are 44% lower
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dehydration
(
J:101158
)
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• body weight of newborn homozygotes rapidly decreases
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• hepatic free fatty acid levels are 27% lower in newborn but not adult homozygotes
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• hepatic triglyceride contents are decreased by 48% in newborn but not adult homozygotes; however hepatic glycogen levels are normal
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liver/biliary system
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• hepatic triglyceride contents are decreased by 48% in newborn but not adult homozygotes; however hepatic glycogen levels are normal
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• hepatic free fatty acid levels are 27% lower in newborn but not adult homozygotes; however hepatic glycogen levels are normal
• newborn but not adult livers show a 54% reduction in the rate of triglyceride synthesis
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limbs/digits/tail
curly tail
(
J:101158
)
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• adult homozygotes have a twisted tail
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growth/size/body
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• newborn homozygotes are significantly smaller than wild-type littermates
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integument
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• the stratum corneum is tightly packed and thickened; however hair follicle structure is normal and surviving adults have normal sebaceous glands and hair growth
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• a decrease in the internal contents of lamellar bodies and a delay in lamellar membrane maturation and phase separation forming a two-phase extracellular system are seen by electrom microscopy; however the number of lamellar bodies is normal
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• within a few hours of birth the skin appears dry and cracked
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• the epidermal lipid composition is altered with repartitioning of linoleic acid from the acylceramide fraction into the phospholipid fraction and a decrease in the cholesteryl ester, triglyceride, acylceramide, and glucosylacylceramide contents
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