Symbol Name ID |
Notch1
notch 1 MGI:97363 |
Darker colors indicate more annotations |
Human Phenotypes | 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 |
Abnormality of the lower limb |
Talipes |
Talipes equinovarus |
Limb hypertonia |
Abnormality of the upper limb |
Single transverse palmar crease |
Disease(s) Associated with NOTCH1 | |||||||||||||||||||||||||
Adams-Oliver syndrome |
Mouse Phenotypes | kinked tail |
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Availability | Mouse Genotype | |
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 04/16/2024 MGI 6.23 |
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