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Phenotypes Associated with This Genotype
Genotype
MGI:5007482
Allelic
Composition
Abhd5tm1.1Rze/Abhd5tm1.1Rze
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abhd5tm1.1Rze mutation (0 available); any Abhd5 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small size, glossy dry skin, and necrotic tail tip in Abhd5tm1.1Rze/Abhd5tm1.1Rze mice

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

integument
• with tightly condensed lamellar sheets in the stratum corneum and increased numbers of cell layers in the stratum spinosum
• keratinocyte differentiation and corneocyte formation are delayed compared with wild-type mice
• skin grafted onto nude mice exhibits severe growth retardation and fails to develop fur unlike when wild-type skin is grafted onto nude mice

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
• in the plasma
• 4.1-fold in the livers of newborn mice
• 1.5-fold in the dermal
• 2.0-fold in epidermis
• in the carcass
• 4.1-fold in the livers of newborn mice
• 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
• 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

immune system
• mice exhibit granulocyte vacuolization unlike wild-type mice

liver/biliary system
• 4.1-fold in the livers of newborn mice
• severe in newborns

growth/size/body

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory