Phenotypes Associated with This Genotype

Genotype
MGI:5007482

• Allelic Composition: Abhd5^tm1.1Rze/Abhd5^tm1.1Rze
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Small size, glossy dry skin, and necrotic tail tip in Abhd5^tm1.1Rze/Abhd5^tm1.1Rze mice

mortality/aging

neonatal lethality ( J:160725 )

• 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

abnormal keratinocyte differentiation ( J:160725 )

hyperkeratosis ( J:160725 )

• with tightly condensed lamellar sheets in the stratum corneum and increased numbers of cell layers in the stratum spinosum

epidermis stratum spinosum hyperplasia ( J:160725 )

abnormal skin development ( J:160725 )

• keratinocyte differentiation and corneocyte formation are delayed compared with wild-type mice

abnormal skin physiology ( J:160725 )

• skin grafted onto nude mice exhibits severe growth retardation and fails to develop fur unlike when wild-type skin is grafted onto nude mice

impaired skin barrier function ( J:160725 )

homeostasis/metabolism

decreased circulating glucose level ( J:160725 )

impaired skin barrier function ( J:160725 )

abnormal lipid homeostasis ( J:160725 )

• 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

abnormal lipid level ( J:160725 )

• 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

decreased circulating triglyceride level ( J:160725 )

decreased fatty acids level ( J:160725 )

• in the plasma

increased triglyceride level ( J:160725 )

• 4.1-fold in the livers of newborn mice

• 1.5-fold in the dermal

• 2.0-fold in epidermis

• in the carcass

increased liver triglyceride level ( J:160725 )

• 4.1-fold in the livers of newborn mice

impaired lipolysis ( J:160725 )

• 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

decreased triglyceride lipase activity ( J:160725 )

• 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

immune system

abnormal granulocyte morphology ( J:160725 )

• mice exhibit granulocyte vacuolization unlike wild-type mice

liver/biliary system

increased liver triglyceride level ( J:160725 )

• 4.1-fold in the livers of newborn mice

hepatic steatosis ( J:160725 )

• severe in newborns

growth/size/body

decreased birth body size ( J:160725 )

decreased birth weight ( J:160725 )

decreased body length ( J:160725 )

• at birth

hematopoietic system

abnormal granulocyte morphology ( J:160725 )

• mice exhibit granulocyte vacuolization unlike wild-type mice

cellular

abnormal keratinocyte differentiation ( J:160725 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Chanarin-Dorfman syndrome		DOID:0050729	OMIM:275630	J:160725