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Notch1 Gene Detail
Summary
  • Symbol
    Notch1
  • Name
    notch 1
  • Synonyms
    9930111A19Rik, lin-12, Mis6, Motch A, N1, Tan1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97363
    NCBI Gene: 18128
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
  • Regulated by
    Rr382, Rr625 (2 regulatory regions)
Location &
Maps
more
  • Sequence Map
    Chr2:26347914-26393834 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 18.91 cM
  • Mapping Data
    19 experiments
Strain
Comparison
more
  • SNPs within 2kb
    882 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97363
 protein coding gene Chr2:26347914-26406675 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025490
 protein coding gene Chr2:24412350-24474919 (-)
A/J MGP_AJ_G0025467
 protein coding gene Chr2:23476101-23534883 (-)
AKR/J MGP_AKRJ_G0025437
 protein coding gene Chr2:24239875-24298678 (-)
BALB/cJ MGP_BALBcJ_G0025463
 protein coding gene Chr2:23586317-23645394 (-)
C3H/HeJ MGP_C3HHeJ_G0025224
 protein coding gene Chr2:24198083-24256771 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025907
 protein coding gene Chr2:25195421-25267769 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023318
 protein coding gene Chr2:22356819-22413065 (-)
CAST/EiJ MGP_CASTEiJ_G0024687
 protein coding gene Chr2:24076667-24135534 (-)
CBA/J MGP_CBAJ_G0025202
 protein coding gene Chr2:26051888-26117331 (-)
DBA/2J MGP_DBA2J_G0025335
 protein coding gene Chr2:23297047-23356229 (-)
FVB/NJ MGP_FVBNJ_G0025297
 protein coding gene Chr2:23051880-23110877 (-)
LP/J MGP_LPJ_G0025421
 protein coding gene Chr2:24355909-24416225 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025328
 protein coding gene Chr2:26199335-26259173 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025966
 protein coding gene Chr2:24197987-24256698 (-)
PWK/PhJ MGP_PWKPhJ_G0024435
 protein coding gene Chr2:23102774-23162333 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024235
 protein coding gene Chr2:24331918-24392915 (-)
WSB/EiJ MGP_WSBEiJ_G0024756
 protein coding gene Chr2:24304101-24363776 (-)



Homology
more
  • Human Ortholog
    NOTCH1, notch receptor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NOTCH1, notch receptor 1
  • Synonyms
    AOS5, AOVD1, hN1, TAN1
  • Links
    NCBI Gene ID: 4851
    UniProt: P46531

  • Chr Location
    9q34.3; chr9:136494433-136546048 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human NOTCH1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    176 phenotypes from 23 alleles in 40 genetic backgrounds
    90 phenotypes from multigenic genotypes
    11 images
    623 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    419
  • GO References
    103
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    2613
  • Tissues
    725
  • cDNA Data
    179
  • Literature Summary
    706
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18128 NCBI Gene Model | MGI Sequence Detail 45921 C57BL/6J ±  kb
    transcript NM_008714 RefSeq | MGI Sequence Detail 9497 ZRU/MplStud  
    polypeptide Q01705 UniProt | EBI | MGI Sequence Detail 2531 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 293
      Genomic 6
      cDNA 191
      Primer pair 49
      Other 47

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12915, MGD-MRK-18791, MGI:1915375
    References
    more
    • Summaries
      All 1651
      Developmental Gene Expression 706
      Diseases 1
      Gene Ontology 103
      Phenotypes 623
    • Earliest
      J:31835 Weinmaster G, et al., A homolog of Drosophila Notch expressed during mammalian development. Development. 1991 Sep;113(1):199-205
    • Latest
      J:374910 Tang Y, et al., Correcting mitochondrial loss mitigates NOTCH1-related aortopathy in mice. Nat Cardiovasc Res. 2025 Feb;4(2):235-247
    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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    Send questions and comments to User Support.     		last database update
    09/30/2025
    MGI 6.24     		The Jackson Laboratory