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Symbol Name ID |
Notch3
notch 3 MGI:99460 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal skull morphology |
Craniofacial hyperostosis |
Dolichocephaly |
Platybasia |
Thickened calvaria |
Micrognathia |
Malar flattening |
Sclerosis of skull base |
Prominent metopic ridge |
Wormian bones |
Short neck |
Abnormal metaphysis morphology |
Joint hypermobility |
Limitation of joint mobility |
Vertebral fusion |
Chondrocalcinosis |
Abnormal thorax morphology |
Pectus excavatum |
Hyperlordosis |
Kyphosis |
Scoliosis |
Abnormal sacrum morphology |
Abnormal form of the vertebral bodies |
Biconcave vertebral bodies |
Bone cyst |
Osteolysis |
| Disease(s) Associated with NOTCH3 | ||||||||||||||||||||||||||
| infantile myofibromatosis | ||||||||||||||||||||||||||
| lateral meningocele syndrome |
| Mouse Phenotypes | abnormal osteoclast differentiation |
increased osteoblast proliferation |
increased osteoclast cell number |
kyphosis |
decreased bone mineral density |
decreased trabecular bone volume |
decreased bone volume |
decreased compact bone thickness |
increased osteoblast cell number |
increased osteocyte number |
abnormal bone trabecula morphology |
decreased bone trabecula number |
decreased trabecular bone connectivity density |
abnormal bone mineralization |
increased bone ossification |
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| Availability | Mouse Genotype | |||||||||||||||
| Notch3hpbk/Notch3hpbk | ||||||||||||||||
| Notch3em1Ecan/Notch3+ | ||||||||||||||||
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 05/28/2024 MGI 6.13 |
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