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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
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:32120820-32166852 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 17.37 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    315 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99460
protein coding gene Chr17:32120820-32166896 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023498
protein coding gene Chr17:31939559-31986777 (-)
A/J MGP_AJ_G0023455
protein coding gene Chr17:30888626-30936102 (-)
AKR/J MGP_AKRJ_G0023421
protein coding gene Chr17:31174938-31224050 (-)
BALB/cJ MGP_BALBcJ_G0023460
protein coding gene Chr17:30977121-31030189 (-)
C3H/HeJ MGP_C3HHeJ_G0023222
protein coding gene Chr17:31556443-31611015 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023903
protein coding gene Chr17:33036321-33085257 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021377
protein coding gene Chr17:27992060-28039797 (-)
CAST/EiJ MGP_CASTEiJ_G0022723
protein coding gene Chr17:31603177-31649639 (-)
CBA/J MGP_CBAJ_G0023197
protein coding gene Chr17:34463488-34515507 (-)
DBA/2J MGP_DBA2J_G0023327
protein coding gene Chr17:30265667-30311731 (-)
FVB/NJ MGP_FVBNJ_G0023297
protein coding gene Chr17:30091008-30138337 (-)
LP/J MGP_LPJ_G0023405
protein coding gene Chr17:32161313-32208841 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023315
protein coding gene Chr17:33547993-33601095 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023945
protein coding gene Chr17:31524084-31573325 (-)
PWK/PhJ MGP_PWKPhJ_G0022472
protein coding gene Chr17:29155782-29203018 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022291
protein coding gene Chr17:29530232-29587211 (-)
WSB/EiJ MGP_WSBEiJ_G0022785
protein coding gene Chr17:31504368-31556849 (-)



Homology
more
  • Human Ortholog
    NOTCH3, notch receptor 3
  • Vertebrate Orthologs
    8
  • Human Ortholog
    NOTCH3, notch receptor 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; 3 with human NOTCH3 associations

Human Disease Mouse Models
      
IDs
View 8 models
      
IDs
View 1 model
      
IDs
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
    52 phenotypes from 11 alleles in 13 genetic backgrounds
    48 phenotypes from multigenic genotypes
    9 images
    86 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038146 Ensembl Gene Model | MGI Sequence Detail 46033 C57BL/6J ±  kb
    transcript ENSMUST00000087723 Ensembl | MGI Sequence Detail 8016 Not Applicable  
    polypeptide ENSMUSP00000085016 Ensembl | MGI Sequence Detail 2318 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 64
      Genomic 3
      cDNA 52
      Primer pair 8
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16230, MGI:2147057, MGI:4418502
    References
    more
    • Summaries
      All 270
      Developmental Gene Expression 129
      Diseases 8
      Gene Ontology 15
      Phenotypes 86
    • 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:270682 Canalis E, et al., The lateral meningocele syndrome mutation causes marked osteopenia in mice. J Biol Chem. 2018 Sep 7;293(36):14165-14177

    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)
    Citing These Resources
    Funding Information
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    last database update
    10/08/2019
    MGI 6.14
    The Jackson Laboratory