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Symbol
Name
ID

Otx2
orthodenticle homeobox 2
MGI:97451

Phenotype annotations related to vision/eye

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Microcornea	Cataract	Optic nerve hypoplasia	Retinal dystrophy	Anophthalmia	Microphthalmia	Coloboma
Disease(s) Associated with OTX2
syndromic microphthalmia 5

Mouse Phenotypes

vision/eye phenotype

absent orbitosphenoid bone

abnormal extraocular muscle morphology

decreased retina ganglion cell number

decreased retina photoreceptor cell number

decreased retina cone cell number

abnormal retina bipolar cell morphology

abnormal retina horizontal cell morphology

abnormal optic nerve morphology

abnormal retina pigment epithelium morphology

retina pigment epithelium hyperplasia

abnormal eye morphology

abnormal anterior eye segment morphology

abnormal iris morphology

aniridia

absent cornea

aphakia

abnormal eye development

absent optic vesicle

abnormal eye distance/ position

microphthalmia

abnormal eyelid morphology

abnormal retina morphology

abnormal retina layer morphology

thin retina inner nuclear layer

thin retina outer nuclear layer

abnormal sclera morphology

anophthalmia

abnormal cone electrophysiology

abnormal rod electrophysiology

decreased visual acuity

Availability

Mouse Genotype

Otx2^tm1Pas/Otx2^tm1Pas

Otx2^tm12.1Asim/Otx2^tm12.1Asim

*

Otx2^tm1Sia/Otx2⁺

Otx2^tm11Asim/Otx2⁺

*

Otx2^tm12.1Asim/Otx2⁺

*

Otx2^tm1.1Tlam/Otx2^{tm2(cre/ERT2)Tlam} (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 04/16/2024 MGI 6.23