Symbol Name ID |
Notch1
notch 1 MGI:97363 |
Darker colors indicate more annotations |
Human Phenotypes | Calvarial skull defect |
Micrognathia |
Microcephaly |
Macrocephaly |
Encephalocele |
Absent distal phalanges |
Short distal phalanx of finger |
Short middle phalanx of finger |
Aplasia of the middle phalanx of the 4th toe |
Absent middle phalanx of the 3rd toe |
Aplasia of the distal phalanges of the toes |
Absent toe |
Short toe |
Short 5th toe |
Toe syndactyly |
2-3 toe syndactyly |
Brachydactyly |
Syndactyly |
Finger syndactyly |
Short metatarsal |
Abnormal metacarpal morphology |
Absent hand |
Short palm |
Split hand |
Aortic valve calcification |
Disease(s) Associated with NOTCH1 | |||||||||||||||||||||||||
Adams-Oliver syndrome | |||||||||||||||||||||||||
aortic valve disease 1 |
Mouse Phenotypes | thick neurocranium |
abnormal skeleton morphology |
abnormal vertebrae morphology |
abnormal bone marrow cavity morphology |
increased trabecular bone volume |
abnormal trabecular bone morphology |
increased bone trabecula number |
decreased bone trabecular spacing |
increased trabecular bone thickness |
increased bone mass |
osteosclerosis |
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Availability | Mouse Genotype | |||||||||||
Notch1tm1b(EUCOMM)Hmgu/Notch1+ | ||||||||||||
Notch1tm2.1Rko/Notch1+ | ||||||||||||
Gt(ROSA)26Sortm1(Notch1)Dam/Gt(ROSA)26Sor+ Tg(Col1a1-cre)1Kry/0 (conditional) |
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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