|
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 | abnormal vertebrae morphology |
|
| Availability | Mouse Genotype | |
| Notch1tm1b(EUCOMM)Hmgu/Notch1+ | ||
| Notch1tm2.1Rko/Notch1+ | ||
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 04/09/2024 MGI 6.23 |
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