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Symbol
Name
ID
Spr
sepiapterin reductase
MGI:103078
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Bradykinesia
Cerebral palsy
Tremor
Delayed speech and language development
Atypical behavior
Cognitive impairment
Intellectual disability
Drowsiness
Sleep abnormality
Hyperreflexia
Dystonia
Oculogyric crisis
Motor delay
Seizure
Disease(s) Associated with SPR
sepiapterin reductase deficiency

Mouse Phenotypes
abnormal dopaminergic neuron morphology
abnormal synaptic neurotransmitter level
Availability Mouse Genotype
Sprtm1Spo/Sprtm1Spo

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
07/02/2024
MGI 6.13
The Jackson Laboratory