About Help FAQ

Symbol
Name
ID

Hmbs
hydroxymethylbilane synthase
MGI:96112

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Reduced erythrocyte porphobilinogen deaminase activity	Unconjugated hyperbilirubinemia	Elevated circulating creatinine concentration	Increased circulating lactate dehydrogenase concentration	Hematuria	Elevated urinary delta-aminolevulinic acid
Disease(s) Associated with HMBS	Reduced erythrocyte porphobilinogen deaminase activity	Unconjugated hyperbilirubinemia	Elevated circulating creatinine concentration	Increased circulating lactate dehydrogenase concentration	Hematuria	Elevated urinary delta-aminolevulinic acid
acute intermittent porphyria
sickle cell anemia

Mouse Phenotypes		increased erythrocyte protoporphyrin level	decreased hydroxymethylbilane synthase level	porphyria	abnormal urine homeostasis	erythruria
Availability	Mouse Genotype	increased erythrocyte protoporphyrin level	decreased hydroxymethylbilane synthase level	porphyria	abnormal urine homeostasis	erythruria
	Hmbs^tm1.1Rjde/Hmbs^tm1.1Rjde
	Hmbs^tm2Uam/Hmbs^tm3Uam

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 04/16/2024 MGI 6.23