|
Symbol Name ID |
Hmbs
hydroxymethylbilane synthase MGI:96112 |
| Darker colors indicate more annotations |
| Human Phenotypes | Reduced erythrocyte porphobilinogen deaminase activity |
Persistence of hemoglobin F |
Increased mean corpuscular volume |
Reticulocytosis |
Hemolytic anemia |
Chronic hemolytic anemia |
Increased red cell sickling tendency |
Hypochromic anemia |
Iron deficiency anemia |
Microcytic anemia |
Target cells |
Leukocytosis |
Thrombocytosis |
Abnormality of the spleen |
Splenic infarction |
Splenomegaly |
| Disease(s) Associated with HMBS | ||||||||||||||||
| acute intermittent porphyria | ||||||||||||||||
| sickle cell anemia |
| Mouse Phenotypes | increased erythrocyte protoporphyrin level |
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| Availability | Mouse Genotype | |
| Hmbstm1.1Rjde/Hmbstm1.1Rjde | ||
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 |
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