About Help FAQ

Symbol
Name
ID

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

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes	Aniridia	Hypoplasia of the iris	Nystagmus	Gaze-evoked nystagmus	Gaze-evoked horizontal nystagmus	Dysmetric saccades	Impaired smooth pursuit	Visual impairment
Disease(s) Associated with ITPR1	Aniridia	Hypoplasia of the iris	Nystagmus	Gaze-evoked nystagmus	Gaze-evoked horizontal nystagmus	Dysmetric saccades	Impaired smooth pursuit	Visual impairment
Gillespie syndrome
spinocerebellar ataxia type 15
spinocerebellar ataxia type 29

Mouse Phenotypes		abnormal visual pursuit	abnormal iris morphology
Availability	Mouse Genotype	abnormal visual pursuit	abnormal iris morphology
	Itpr1^em1Drf/Itpr1⁺
	Itpr1^tm1.1Kmik/Itpr1^tm1.1Kmik Tg(Pcp2-cre)2Mpin/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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23