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Symbol
Name
ID
Hmbs
hydroxymethylbilane synthase
MGI:96112
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Stroke
Ischemic stroke
Respiratory paralysis
Abnormality of the nervous system
Paralysis
Depression
Anxiety
Psychotic episodes
Acute episodes of neuropathic symptoms
Seizure
Paresthesia
Disease(s) Associated with HMBS
acute intermittent porphyria
sickle cell anemia

Mouse Phenotypes
abnormal brain morphology
abnormal axon morphology
decreased myelin sheath amount
abnormal myelination
Availability Mouse Genotype
Hmbstm1.1Rjde/Hmbstm1.1Rjde
Hmbstm2Uam/Hmbstm3Uam

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