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Symbol
Name
ID
Notch1
notch 1
MGI:97363
Phenotype annotations related to integument
Darker colors indicate more annotations
Human Phenotypes
Low anterior hairline
Single transverse palmar crease
Supernumerary nipple
Cutis marmorata
Alopecia
Sparse hair
Hypoplastic fingernail
Hypoplastic fifth fingernail
Aplastic/hypoplastic toenail
Absent toenail
Hypoplastic toenails
Dystrophic toenail
Toenail dysplasia
Absent fingernail
Small nail
Aplasia/Hypoplasia of the skin
Aplasia cutis congenita
Aplasia cutis congenita over posterior parietal area
Aplasia cutis congenita on trunk or limbs
Cutis marmorata telangiectatica congenita
Disease(s) Associated with NOTCH1
Adams-Oliver syndrome

Mouse Phenotypes
Meibomian gland degeneration
small sebaceous gland
diluted coat color
abnormal hair growth
alopecia
short hair
waved hair
abnormal hair shaft morphology
abnormal hair follicle morphology
disorganized inner root sheath cells
Availability Mouse Genotype
Notch1tm1Agt/Notch1tm1Agt
Tg(Tyr-cre)2Lru/0  (conditional)
Notch1tm2Rko/Notch1tm2Rko
Tg(Msx2-cre)5Rem/0  (conditional)
Notch1tm2Rko/Notch1tm2Rko
Tg(KRT14-rtTA)F42Efu/0
Tg(tetO-cre)1Jaw/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
04/09/2024
MGI 6.23
The Jackson Laboratory