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Symbol
Name
ID
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
MGI:105089
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Increased circulating very long-chain fatty acid concentration
Elevated circulating hepatic transaminase concentration
Diabetes mellitus
Fever
Hepatic steatosis
Very long chain fatty acid accumulation
Fetal ascites
Elevated circulating follicle stimulating hormone level
Elevated circulating luteinizing hormone level
Increased circulating gonadotropin level
Decreased serum estradiol
Calcific stippling
Disease(s) Associated with HSD17B4
D-bifunctional protein deficiency
Perrault syndrome
Stiff-Person syndrome

Mouse Phenotypes
decreased circulating aspartate transaminase level
abnormal lipid homeostasis
abnormal bile salt level
abnormal lipid level
increased fatty acids level
Availability Mouse Genotype
Hsd17b4tm1Baes/Hsd17b4tm1Baes
Hsd17b4em1(IMPC)Tcp/Hsd17b4+
Hsd17b4tm2Baes/Hsd17b4tm2Baes
Cnptm1(cre)Kan/Cnp+  (conditional)
Hsd17b4tm2Baes/Hsd17b4tm2Baes
Tg(Nes-cre)1Kln/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)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory