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Symbol
Name
ID
Notch1
notch 1
MGI:97363
Phenotype annotations related to limbs/digits/tail
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
Availability Mouse Genotype
Gt(ROSA)26Sortm1(Notch1)Dam/Gt(ROSA)26Sor+
Tg(Col1a1-cre)1Kry/0  (conditional)

Contributing Projects:
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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Funding Information
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory