Symbol Name ID |
Tgfbr2
transforming growth factor, beta receptor II MGI:98729 |
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 |
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Availability | Mouse Genotype | ||||||||||||||||||
Tg(CAG-cre/Esr1*)5Amc/0 Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm (conditional) |
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Tgfbr2tm1Karl/Tgfbr2tm1Karl Tg(Mx1-cre)1Cgn/0 (conditional) |
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 |
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