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Symbol
Name
ID
Tgfbr2
transforming growth factor, beta receptor II
MGI:98729
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Astigmatism
Microspherophakia
Cataract
Ectopia lentis
Hypoplasia of the iris
Retinal detachment
Blue sclerae
Deeply set eye
Hypertelorism
Proptosis
Increased axial length of the globe
Inferior oblique muscle overaction
Strabismus
Esotropia
Exotropia
Hypertropia
Myopia
Amaurosis fugax
Visual impairment
Visual field defect
Glaucoma
Disease(s) Associated with TGFBR2
Loeys-Dietz syndrome 2
Lynch syndrome
Marfan syndrome

Mouse Phenotypes
abnormal retina vasculature morphology
abnormal retina blood vessel morphology
retina microaneurysm
retina neovascularization
retina hemorrhage
vitreous body hemorrhage
increased retina apoptosis
eye inflammation
decreased retina ganglion cell number
persistence of hyaloid vascular system
abnormal retina morphology
abnormal retina layer morphology
abnormal retina neuronal layer morphology
thin retina outer nuclear layer
retina detachment
abnormal electroretinogram waveform feature
decreased a-wave amplitude
decreased b-wave amplitude
Availability Mouse Genotype
Tg(CAG-cre/Esr1*)5Amc/0
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm  (conditional)
Tgfbr2tm1Karl/Tgfbr2tm1Karl
Tg(Mx1-cre)1Cgn/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
04/30/2024
MGI 6.23
The Jackson Laboratory