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Symbol
Name
ID

Hprt1
hypoxanthine phosphoribosyltransferase 1
MGI:96217

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Dysphagia

Spasticity

Opisthotonus

Abnormality of the nervous system

Abnormality of extrapyramidal motor function

Choreoathetosis

Dysarthria

Self-injurious behavior

Self-mutilation

Intellectual disability

Hyperreflexia

Dystonia

Global developmental delay

Motor delay

Seizure

Disease(s) Associated with HPRT1

HRPT-related hyperuricemia

Lesch-Nyhan syndrome

Mouse Phenotypes		seizures	abnormal dopaminergic neuron morphology	neuronal intranuclear inclusions
Availability	Mouse Genotype	seizures	abnormal dopaminergic neuron morphology	neuronal intranuclear inclusions
	Hprt1^b-m3/Hprt1^b-m3
	Hprt1^tm2Detl/Hprt1^tm2Detl
	Hprt1^tm4Detl/Hprt1^tm4Detl
	Hprt1^tm6Detl/Hprt1^tm6Detl
	Hprt1^b-m3/Y
	Hprt1^tm2Detl/Y
	Hprt1^tm4Detl/Y
	Hprt1^tm6Detl/Y

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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