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Symbol
Name
ID

Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
MGI:97583

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Abnormality of speech or vocalization	Delayed speech and language development	Intellectual disability, mild	Neurodevelopmental delay
Disease(s) Associated with PIK3R1	Abnormality of speech or vocalization	Delayed speech and language development	Intellectual disability, mild	Neurodevelopmental delay
immunodeficiency 36
SHORT syndrome

Mouse Phenotypes		abnormal retina cone cell morphology	retina cone cell degeneration	abnormal synapse morphology	abnormal ribbon synapse morphology
Availability	Mouse Genotype
	Pik3r1^tm1Lca/Pik3r1^tm1Lca Tg(OPN1LW-cre)4Yzl/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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