|
Symbol Name ID |
Notch2
notch 2 MGI:97364 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Brachycephaly |
Micrognathia |
Absent frontal sinuses |
Malar flattening |
Elongated sella turcica |
Basilar impression |
Wormian bones |
Short neck |
Fibular bowing |
Genu valgum |
Clinodactyly of the 5th finger |
Short distal phalanx of finger |
Osteolytic defects of the phalanges of the hand |
Foot acroosteolysis |
Dislocated radial head |
Hypoplasia of the ulna |
Crowded carpal bones |
Joint hypermobility |
Delayed skeletal maturation |
Pathologic fracture |
Abnormal rib morphology |
Kyphoscoliosis |
Abnormal form of the vertebral bodies |
Biconcave vertebral bodies |
Hemivertebrae |
Tall lumbar vertebral bodies |
Butterfly vertebral arch |
Vertebral compression fracture |
Vertebral segmentation defect |
Cervical instability |
Osteopenia |
Osteoporosis |
| Disease(s) Associated with NOTCH2 | |||||||||||||||||||||||||||||||||
| Alagille syndrome | |||||||||||||||||||||||||||||||||
| Hajdu-Cheney syndrome |
| Mouse Phenotypes | skeleton phenotype |
abnormal osteoclast differentiation |
abnormal tooth morphology |
increased osteoclast cell number |
abnormal osteoclast morphology |
abnormal femur morphology |
decreased femur compact bone thickness |
decreased diameter of femur |
short femur |
short tibia |
abnormal skeleton morphology |
abnormal vertebral body morphology |
short vertebral body |
decreased bone mineral density of femur |
decreased bone mineral density |
decreased compact bone volume |
decreased trabecular bone volume |
decreased bone volume |
abnormal compact bone morphology |
decreased compact bone area |
decreased compact bone thickness |
increased osteoblast cell number |
abnormal trabecular bone morphology |
abnormal bone trabecula morphology |
decreased bone trabecula number |
increased bone trabecular spacing |
decreased trabecular bone connectivity density |
decreased trabecular bone thickness |
decreased bone mineralization |
increased bone mineralization |
increased bone ossification |
increased bone resorption |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||
| Notch2tm1.1Hhtg/Notch2tm1.1Hhtg | |||||||||||||||||||||||||||||||||
| Notch2tm2.1Ecan/Notch2tm2.1Ecan | * | ||||||||||||||||||||||||||||||||
| Notch2tm1.1Ecan/Notch2+ | |||||||||||||||||||||||||||||||||
| Notch2tm1.1Hhtg/Notch2+ | |||||||||||||||||||||||||||||||||
| Notch2tm2.2Ecan/Notch2+ | |||||||||||||||||||||||||||||||||
| Notch2tm2.1Ecan/Notch2tm2.1Ecan Lyz2tm1(cre)Ifo/Lyz2tm1(cre)Ifo (conditional) |
* | ||||||||||||||||||||||||||||||||
| Notch2tm2.1Ecan/Notch2tm2.1Ecan Lyz2tm1(cre)Ifo/Lyz2+ (conditional) |
* | ||||||||||||||||||||||||||||||||
| Notch2tm2.1Ecan/Notch2tm2.1Ecan Tg(BGLAP-cre)1Clem/0 (conditional) |
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| Notch2tm3Grid/Notch2tm3.1Grid Pax3tm1(cre)Joe/Pax3+ (conditional) |
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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 04/16/2024 MGI 6.23 |
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