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Notch3 Gene Detail
Summary
  • Symbol
    Notch3
  • Name
    notch 3
  • Synonyms
    hpbk, N3
  • Feature Type
    protein coding gene
  • IDs
    MGI:99460
    NCBI Gene: 18131
  • Gene Overview
    MyGene.info: NOTCH3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:32120820-32166880 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      46061 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 17.37 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    NOTCH3, notch 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    NOTCH3, notch 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CADASIL, CADASIL1, CASIL, IMF2, LMNS
  • Links
    NCBI Gene ID: 4854
    neXtProt AC: NX_Q9UM47
    UniProt: Q9UM47

  • Chr Location
    19p13.12; chr19:15159633-15200981 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Notch3 mouse models; 2 with human NOTCH3 associations

Human Disease Mouse Models
      
IDs
View 8 models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    55 phenotypes from 11 alleles in 13 genetic backgrounds
    48 phenotypes from multigenic genotypes
    9 images
    79 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.
Some, but not all, null alleles cause defects in artery morphology and in T cell development. Progressive emaciation and kyphosis with paraphimosis occurs in an intron 31 splice donor site point mutant. In conjunction with Notch1 deficiency, abnormalities in embryonic development have been observed.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000030086 VEGA Gene Model | MGI Sequence Detail 46061 C57BL/6J ±  kb
    transcript OTTMUST00000074537 VEGA | MGI Sequence Detail 8044 Not Applicable  
    polypeptide OTTMUSP00000038868 VEGA | MGI Sequence Detail 2318 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      316 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 60
      Genomic 3
      cDNA 48
      Primer pair 8
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16230, MGI:2147057, MGI:4418502
    References
    more
    • Summaries
      All 257
      Developmental Gene Expression 125
      Diseases 8
      Gene Ontology 14
      Phenotypes 79
    • Earliest
      J:18687 Lardelli M, et al., The novel Notch homologue mouse Notch 3 lacks specific epidermal growth factor-repeats and is expressed in proliferating neuroepithelium. Mech Dev. 1994 May;46(2):123-36
    • Latest
      J:257440 Dvoriantchikova G, et al., Molecular Profiling of the Developing Lacrimal Gland Reveals Putative Role of Notch Signaling in Branching Morphogenesis. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1098-1109

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory