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Symbol
Name
ID
Nr1h4
nuclear receptor subfamily 1, group H, member 4
MGI:1352464
Phenotype annotations related to homeostasis/metabolism
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Conjugated hyperbilirubinemia
Hyperammonemia
Elevated circulating alpha-fetoprotein concentration
Elevated circulating alanine aminotransferase concentration
Elevated circulating aspartate aminotransferase concentration
Hypoglycemia
Nonimmune hydrops fetalis
Pleural effusion
Ascites
Disease(s) Associated with NR1H4
progressive familial intrahepatic cholestasis 5

Mouse Phenotypes
homeostasis/metabolism phenotype
abnormal blood homeostasis
increased circulating bilirubin level
decreased circulating glucose level
decreased circulating insulin level
increased circulating cholesterol level
decreased circulating free fatty acids level
increased circulating phospholipid level
increased circulating triglyceride level
increased circulating alanine transaminase level
increased circulating aspartate transaminase level
decreased body temperature
increased energy expenditure
impaired glucose tolerance
abnormal bile salt homeostasis
abnormal bile salt level
increased bile salt level
increased liver cholesterol level
increased liver triglyceride level
Availability Mouse Genotype
Nr1h4tm1.1Mbj/Nr1h4tm1.1Mbj *
Nr1h4tm1.2Auw/Nr1h4tm1.2Auw
Nr1h4tm1Gonz/Nr1h4tm1Gonz *
Nr1h4tm1Kok/Nr1h4tm1Kok
Nr1h4tm1.1Gonz/Nr1h4tm1.1Gonz
Tg(Vil1-cre)997Gum/0  (conditional)
Nr1h4tm1.1Gonz/Nr1h4tm1.1Gonz
Tg(Alb1-cre)1Dlr/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
04/30/2024
MGI 6.23
The Jackson Laboratory