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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
Microcornea
Sclerocornea
Iris coloboma
Cataract
Developmental cataract
Abnormal choroid morphology
Abnormality of retinal pigmentation
Pigmentary retinopathy
Retinal detachment
Retinal dystrophy
Optic disc drusen
Optic nerve hypoplasia
Remnants of the hyaloid vascular system
Anophthalmia
Microphthalmia
Bilateral microphthalmos
Coloboma
Phthisis bulbi
Strabismus
Exotropia
Nystagmus
High hypermetropia
Myopia
Visual impairment
Reduced visual acuity
Blindness
Visual loss
Glaucoma
Ptosis
Disease(s) Associated with SOX2
microphthalmia

Mouse Phenotypes
vision/eye phenotype
optic nerve hypoplasia
abnormal retinal progenitor cell morphology
abnormal eye size
microphthalmia
abnormal retina morphology
disorganized retinal layers
retina hyperplasia
retina hypoplasia
anophthalmia
Availability Mouse Genotype
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
11/05/2019
MGI 6.14
The Jackson Laboratory