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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
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: HGNC, HomoloGene
  • Synonyms
    CADASIL, CADASIL1, CASIL, IMF2, LMNS
  • Links
    NCBI Gene ID: 4854
    neXtProt AC: NX_Q9UM47

  • Chr Location
    19p13.12; chr19:15159633-15200981 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Notch3 mouse models; 3 with human NOTCH3 associations

Human Disease Mouse Models
       Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1; CADASIL1   OMIM: 125310 View 8 models
       Leukemia, Acute Lymphoblastic; ALL   OMIM: 613065 View 1 model
       Lateral Meningocele Syndrome; LMNS   OMIM: 130720
Myofibromatosis, Infantile, 2; IMF2   OMIM: 615293
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
    48 phenotypes from 11 alleles in 13 genetic backgrounds
    48 phenotypes from multigenic genotypes
    7 images
    62 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.
  • All Mutations and Alleles
    25
  • Chemically induced (ENU)
    1
  • Gene trapped
    9
  • Targeted
    12
  • Transgenic
    3
  • Incidental Mutations
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
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
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
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  • 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
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MGD-MRK-16230, MGI:2147057, MGI:4418502
References
more
  • Summaries
    All 211
    Developmental Gene Expression 115
    Diseases 8
    Gene Ontology 14
    Phenotypes 62
  • 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:229950 Fujita M, et al., Pharyngeal arch artery defects and lethal malformations of the aortic arch and its branches in mice deficient for the Hrt1/Hey1 transcription factor. Mech Dev. 2016 Feb;139:65-73

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory