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Symbol
Name
ID
Tfap2a
transcription factor AP-2, alpha
MGI:104671
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Iris coloboma
Cataract
Retinal coloboma
Hypertelorism
Anophthalmia
Microphthalmia
Strabismus
Nystagmus
Myopia
Ptosis
Disease(s) Associated with TFAP2A
branchiooculofacial syndrome

Mouse Phenotypes
small orbits
abnormal retinal pigment epithelium morphology
abnormal iris morphology
aniridia
abnormal cornea morphology
abnormal lens morphology
abnormal lens induction
abnormal lens vesicle development
small lens
abnormal optic fissure closure
abnormal optic stalk morphology
ocular hypertelorism
absent eyelids
abnormal retina morphology
absent retinal ganglion layer
anophthalmia
Availability Mouse Genotype
Tfap2aMhdador/Tfap2aMhdador
Tfap2atm1Jae/Tfap2atm1Jae
Tfap2atm1Will/Tfap2atm1Will
Tfap2atm2Will/Tfap2atm2Will
HhatTg(TFAP2A-cre)1Will/0  (conditional)
Tfap2atm1Hsv/Tfap2atm2Will
H2az2Tg(Wnt1-cre)11Rth/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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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory