mortality/aging
• mice die within 16 hours of birth
• lifespan cannot be prolonged by glucose injection or increased humidity plus application of Vaseline to prevent desiccation
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integument
• with tightly condensed lamellar sheets in the stratum corneum and increased numbers of cell layers in the stratum spinosum
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• keratinocyte differentiation and corneocyte formation are delayed compared with wild-type mice
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• skin grafted onto nude mice exhibits severe growth retardation and fails to develop fur unlike when wild-type skin is grafted onto nude mice
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homeostasis/metabolism
• mouse embryonic fibroblasts (MEFs) treated with oleic acid to induce lipogenesis exhibit a 1.6-fold increase in triglyceride accumulation compared with similarly treated wild-type cells
• unlike in wild-type mice, acylceramide formation is impaired
|
• all species of covalently bonded omega-OH-ceramides in the epidermis compared with wild-type mice
• free omega-OH-ceramide species are increased 13.5-fold in the epidermis compared to in wild-type mice
• acylceramides are undetectable in the epidermis unlike in wild-type mice
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• in the plasma
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• 4.1-fold in the livers of newborn mice
• 1.5-fold in the dermal
• 2.0-fold in epidermis
• in the carcass
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• 4.1-fold in the livers of newborn mice
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• mouse embryonic fibroblasts exhibit decreased triglyceride hydrolase activity compared with wild-type cells
• liver, epidermal, and skin triglyceride hydrolase activity is decreased compared to in wild-type mice
• however, lipolysis is partially rescued by increased Abhd5 protein and liver triglyceride hydrolase activity is completely rescued by increased Abhd5 protein, even exceeding wild-type levels
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• MEFs exhibit decreased triglyceride hydrolase activity compared with wild-type cells
• liver, epidermal, and skin triglyceride hydrolase activity is decreased compared to in wild-type mice
• however, lipolysis is partially rescued by increased Abhd5 protein and liver triglyceride hydrolase activity is completely rescued by increased Abhd5 protein, even exceeding wild-type levels
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immune system
• mice exhibit granulocyte vacuolization unlike wild-type mice
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liver/biliary system
• 4.1-fold in the livers of newborn mice
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• severe in newborns
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growth/size/body
• at birth
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hematopoietic system
• mice exhibit granulocyte vacuolization unlike wild-type mice
|
cellular
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Chanarin-Dorfman syndrome | DOID:0050729 |
OMIM:275630 |
J:160725 |