Symbol
Name
ID

Tsc1
TSC complex subunit 1
MGI:1929183

Phenotype annotations related to vision/eye

!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes	Retinal hamartoma	Optic atrophy	Achromatic retinal patches
Disease(s) Associated with TSC1	Retinal hamartoma	Optic atrophy	Achromatic retinal patches
lymphangioleiomyomatosis
tuberous sclerosis 1

Mouse Phenotypes

abnormal retina vasculature morphology

abnormal iris pigment epithelium

abnormal anterior eye segment morphology

abnormal ciliary body morphology

abnormal ciliary epithelium morphology

abnormal iris morphology

mydriasis

iris hypoplasia

abnormal cornea morphology

abnormal eye anterior chamber morphology

abnormal eye development

abnormal optic cup morphology

abnormal posterior eye segment morphology

abnormal retina morphology

Availability

Mouse Genotype

Tg(Tal1-cre/ERT)1Jrg/0
Tsc1^tm1Djk/Tsc1^tm1Djk (conditional)

Tsc1^tm1Djk/Tsc1^tm1Djk
Tg(Lhx2-cre)1Lcar/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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