Symbol
Name
ID

Abhd5
abhydrolase domain containing 5
MGI:1914719

Phenotype annotations related to homeostasis/metabolism

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Hypertriglyceridemia	Abnormal circulating creatine kinase concentration	Increased CSF protein concentration	Elevated circulating hepatic transaminase concentration	Dehydration	Hepatic steatosis	Increased intramyocellular lipid droplets	Ketosis
Disease(s) Associated with ABHD5	Hypertriglyceridemia	Abnormal circulating creatine kinase concentration	Increased CSF protein concentration	Elevated circulating hepatic transaminase concentration	Dehydration	Hepatic steatosis	Increased intramyocellular lipid droplets	Ketosis
autosomal recessive congenital ichthyosis 1
Chanarin-Dorfman syndrome

Mouse Phenotypes

homeostasis/metabolism phenotype

increased cardiac muscle triglyceride level

decreased fatty acid oxidation

decreased circulating glucose level

decreased circulating insulin level

decreased circulating free fatty acids level

decreased circulating triglyceride level

increased circulating alanine transaminase level

increased circulating aspartate transaminase level

impaired skin barrier function

decreased oxygen consumption

increased respiratory quotient

abnormal glucose homeostasis

improved glucose tolerance

abnormal lipid homeostasis

increased liver cholesterol level

abnormal lipid level

increased liver free fatty acids level

decreased fatty acids level

abnormal phospholipid level

abnormal ceramide level

decreased liver triglyceride level

increased liver triglyceride level

increased skeletal muscle triglyceride level

increased triglyceride level

impaired lipolysis

decreased lipoprotein lipase activity

decreased triglyceride lipase activity

Availability

Mouse Genotype

Abhd5^tm1.1Rze/Abhd5^tm1.1Rze

Abhd5^tm1Murm/Abhd5^tm1Murm

Abhd5^tm1.1Lqyu/Abhd5^tm1.1Lqyu
Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺ (conditional)

Abhd5^tm1Rze/Abhd5^tm1Rze
Tg(Ckmm-cre)5Khn/0 (conditional)

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23