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Symbol
Name
ID
Cbs
cystathionine beta-synthase
MGI:88285
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Cataract
Ectopia lentis
Lens subluxation
Optic atrophy
Abnormality of retinal pigmentation
Retinal detachment
Retinopathy
Myopia
Visual impairment
Amblyopia
Glaucoma
Disease(s) Associated with CBS
homocystinuria
malaria

Mouse Phenotypes
abnormal retina vasculature morphology
abnormal retina blood vessel morphology
abnormal retina blood vessel pattern
retina microaneurysm
retina neovascularization
abnormal Muller cell morphology
abnormal blood-retina barrier function
abnormal eye development
microphthalmia
delayed eyelid opening
abnormal retina morphology
retina gliosis
abnormal vitreous body morphology
retina ischemia
Availability Mouse Genotype
Cbstm1Unc/Cbstm1Unc
Cbstm1Unc/Cbs+

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
04/23/2024
MGI 6.23
The Jackson Laboratory