Symbol
Name
ID

Inpp5e
inositol polyphosphate-5-phosphatase E
MGI:1927753

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes

Iris coloboma

Chorioretinal coloboma

Optic disc coloboma

Optic disc pallor

Retinal dysplasia

Retinal dystrophy

Strabismus

Nystagmus

Abnormal saccadic eye movements

Abnormality of ocular smooth pursuit

Impaired smooth pursuit

Oculomotor apraxia

Ptosis

Disease(s) Associated with INPP5E

Joubert syndrome

Joubert syndrome 1

Mouse Phenotypes		eye hemorrhage	abnormal eye morphology	abnormal eye development	microphthalmia	abnormal retina photoreceptor layer morphology	anophthalmia
Availability	Mouse Genotype	eye hemorrhage	abnormal eye morphology	abnormal eye development	microphthalmia	abnormal retina photoreceptor layer morphology	anophthalmia
	Inpp5e^m1Tc/Inpp5e^m1Tc
	Inpp5e^{tm1.1(KOMP)Vlcg}/Inpp5e^{tm1.1(KOMP)Vlcg}
	Inpp5e^tm1.2Ssch/Inpp5e^tm1.2Ssch
	Inpp5e^{tm1.1(KOMP)Vlcg}/Inpp5e⁺
	Inpp5e^tm1.1Ssch/Inpp5e^tm1.2Ssch Tg(CAG-cre/Esr1*)5Amc/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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