Symbol Name ID |
Vps13b
vacuolar protein sorting 13B MGI:1916380 |
Darker colors indicate more annotations |
Human Phenotypes | Iris coloboma |
Chorioretinal dystrophy |
Optic atrophy |
Bull's eye maculopathy |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Microphthalmia |
Strabismus |
Nystagmus |
Myopia |
Nyctalopia |
Visual impairment |
Reduced visual acuity |
Disease(s) Associated with VPS13B | |||||||||||||
Cohen syndrome |
Mouse Phenotypes | abnormal retina vasculature morphology |
abnormal retina blood vessel morphology |
eye inflammation |
abnormal lens morphology |
cataract |
cortical cataract |
mature cataract |
persistence of hyaloid vascular system |
abnormal retina morphology |
retina fold |
abnormal vitreous body morphology |
vitreal fibroplasia |
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Availability | Mouse Genotype | ||||||||||||
Vps13bem1(IMPC)Tcp/Vps13bem1(IMPC)Tcp | |||||||||||||
Vps13btm1.2Ics/Vps13btm1.2Ics |
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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