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Symbol
Name
ID
Notch1
notch 1
MGI:97363
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Microcephaly
Macrocephaly
Calvarial skull defect
Encephalocele
Short distal phalanx of finger
Absent toe
Short toe
Toe syndactyly
2-3 toe syndactyly
Brachydactyly
Syndactyly
Finger syndactyly
Short metatarsal
Abnormality of the metacarpal bones
Absent hand
Split hand
Disease(s) Associated with NOTCH1
Adams-Oliver syndrome

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
Availability Mouse Genotype
Notch1tm1b(EUCOMM)Hmgu/Notch1+
Notch1tm2.1Rko/Notch1+
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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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory