Symbol
Name
ID

Itpr1
inositol 1,4,5-trisphosphate receptor 1
MGI:96623

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Ataxia	Abnormality of speech or vocalization	Scanning speech	Intellectual disability	Abnormality of movement	Global developmental delay
Disease(s) Associated with ITPR1
Gillespie syndrome

Mouse Phenotypes

nervous system phenotype

seizures

tonic-clonic seizures

decreased brain size

abnormal cerebellum morphology

abnormal Purkinje cell dendrite morphology

decreased Purkinje cell size

thin cerebellar molecular layer

abnormal CNS synaptic transmission

abnormal excitatory postsynaptic currents

abnormal excitatory postsynaptic potential

absent long-term depression

Availability

Mouse Genotype

Itpr1^opt/Itpr1^opt

Itpr1^tm1Tno/Itpr1^tm1Tno

Itpr1^tm1.1Kmik/Itpr1^tm1.1Kmik
Tg(Pcp2-cre)2Mpin/0 (conditional)

Itpr1^tm1.1Kmik/Itpr1^tm1.1Kmik
Tg(Pcp2-cre)2Mpin/0
Tg(Pcp2-EGFP)2Yuza/0 (conditional)

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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