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Symbol
Name
ID

Inpp5e
inositol polyphosphate-5-phosphatase E
MGI:1927753

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Encephalocele

Aganglionic megacolon

Oculomotor apraxia

Elongated superior cerebellar peduncle

Hypoplasia of the brainstem

Brainstem dysplasia

Hydrocephalus

Enlarged fossa interpeduncularis

Polymicrogyria

Aplasia/Hypoplasia of the corpus callosum

Agenesis of cerebellar vermis

Cerebellar vermis hypoplasia

Dysgenesis of the cerebellar vermis

Molar tooth sign on MRI

Occipital myelomeningocele

Abnormality of neuronal migration

Ataxia

Hemifacial spasm

Tremor

Delayed speech and language development

Aggressive behavior

Hyperactivity

Self-mutilation

Intellectual disability

Gait disturbance

Global developmental delay

Delayed ability to sit

Delayed ability to walk

Seizure

Disease(s) Associated with INPP5E

Joubert syndrome

Joubert syndrome 1

Mouse Phenotypes		abnormal neural tube morphology	abnormal neural tube closure	abnormal nervous system morphology	abnormal midbrain morphology	abnormal forebrain morphology	abnormal hindbrain morphology	anencephaly	exencephaly
Availability	Mouse Genotype	abnormal neural tube morphology	abnormal neural tube closure	abnormal nervous system morphology	abnormal midbrain morphology	abnormal forebrain morphology	abnormal hindbrain morphology	anencephaly	exencephaly
	Inpp5e^m1Tc/Inpp5e^m1Tc
	Inpp5e^{tm1.1(KOMP)Vlcg}/Inpp5e^{tm1.1(KOMP)Vlcg}
	Inpp5e^tm1.2Ssch/Inpp5e^tm1.2Ssch

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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