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Symbol Name ID |
Cbs
cystathionine beta-synthase MGI:88285 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Genu valgum |
Arachnodactyly |
Limitation of joint mobility |
Joint stiffness |
Recurrent fractures |
Pectus carinatum |
Pectus excavatum |
Kyphosis |
Kyphoscoliosis |
Scoliosis |
Biconcave vertebral bodies |
Osteoporosis |
Generalized osteoporosis |
Gout |
| Disease(s) Associated with CBS | |||||||||||||||
| coronary artery disease | |||||||||||||||
| homocystinuria |
| Mouse Phenotypes | short humerus |
short ulna |
short femur |
short tibia |
abnormal long bone hypertrophic chondrocyte zone |
disorganized long bone epiphyseal plate |
increased long bone epiphyseal plate size |
decreased length of long bones |
abnormal spine curvature |
kyphosis |
kyphoscoliosis |
small vertebrae |
abnormal cartilage development |
delayed endochondral bone ossification |
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| Availability | Mouse Genotype | ||||||||||||||
| Cbstm1Unc/Cbstm1Unc | |||||||||||||||
| Cbstm1Unc/Cbs+ | |||||||||||||||
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 |
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