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Symbol
Name
ID
Sox2
SRY (sex determining region Y)-box 2
MGI:98364
Phenotype annotations related to vision/eye
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Sclerocornea
Cataract
Iris coloboma
Optic nerve aplasia
Optic nerve hypoplasia
Anophthalmia
Microphthalmia
Coloboma
Visual loss
Disease(s) Associated with SOX2
syndromic microphthalmia 3

Mouse Phenotypes
vision/eye phenotype
abnormal retina blood vessel morphology
abnormal optic disk morphology
optic nerve hypoplasia
irregularly shaped pupil
abnormal retina progenitor cell morphology
abnormal eye size
microphthalmia
abnormal retina morphology
disorganized retina layers
retina hyperplasia
retina hypoplasia
anophthalmia
Availability Mouse Genotype
Sox2em1(IMPC)Mbp/Sox2+
Sox2tm1Lpev/Sox2tm3Lpev
Sox2tm1Lpev/Sox2tm4Lpev
Sox2tm1Rlb/Sox2+ *
Sox2tm1.1Lan/Sox2tm1.1Lan
Tg(Cryaa-cre)10Mlr/0  (conditional)
*
Sox2tm2Lpev/Sox2tm2Lpev
Tg(Pax6-cre,GFP)2Pgr/?  (conditional)
Sox2tm1Lpev/Sox2tm2Lpev
Tg(Pax6-cre,GFP)2Pgr/?  (conditional)
Sox2tm2Lpev/Sox2tm2.1Lpev
Tg(Pax6-cre,GFP)2Pgr/?  (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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory