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

Ventriculomegaly

Thin corpus callosum

Cerebellar vermis hypoplasia

Cerebellar vermis atrophy

Cerebellar hypoplasia

Cerebellar atrophy

Diffuse cerebellar atrophy

Ataxia

Dysdiadochokinesis

Dysmetria

Gait ataxia

Limb ataxia

Nonprogressive cerebellar ataxia

Truncal ataxia

Slurred speech

Action tremor

Intention tremor

Postural tremor

Truncal titubation

Abnormality of speech or vocalization

Delayed speech and language development

Dysarthria

Scanning speech

Intellectual disability

Intellectual disability, mild

Abnormality of movement

Hyperreflexia

Broad-based gait

Impaired tandem gait

Global developmental delay

Motor delay

Delayed gross motor development

Delayed ability to stand

Delayed ability to walk

Focal impaired awareness seizure

Disease(s) Associated with ITPR1

Gillespie syndrome

spinocerebellar ataxia type 15

spinocerebellar ataxia type 29

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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