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Symbol
Name
ID
Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
MGI:102805
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Spasticity
Spastic paraplegia
Abnormal cerebral white matter morphology
Dysarthria
Aggressive behavior
Intellectual disability
Intellectual disability, borderline
Intellectual disability, moderate
Areflexia
Gait disturbance
Disease(s) Associated with ENTPD1
hereditary spastic paraplegia 64

Mouse Phenotypes
increased susceptibility to ischemic brain injury
increased cerebral infarct size
abnormal brain morphology
abnormal neurotransmitter secretion
abnormal synaptic norepinephrine release
increased neurotransmitter release
Availability Mouse Genotype
Entpd1tm1Djp/Entpd1tm1Djp
Entpd1tm1Rdr/Entpd1tm1Rdr

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
04/23/2024
MGI 6.23
The Jackson Laboratory