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Notch3
Gene Detail
 Symbol
Name
ID
Notch3
notch 3
MGI:99460
Synonyms hpbk, N3
Feature Type protein coding gene
Genetic Map
Chromosome 17
17.37 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr17:32120820-32166880 bp, - strand
From VEGA annotation of GRCm38

  46061 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:376  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Protein SuperFamily: notch protein
Gene Tree: Notch3

Human
homologs
Human Homolog NOTCH3, notch 3
NCBI Gene ID 4854
neXtProt AC  NX_Q9UM47
Human Synonyms  CADASIL, CASIL, IMF2
Human Chr (Location)  19p13.2-p13.1; chr19:15159633-15200981 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human NOTCH3
Alleles
and
phenotypes
All alleles(17) : Chemically induced (ENU)(1) Gene trapped(9) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Notch3 (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (29 annotations)
Process cell differentiation, forebrain development, ...
Component actin cytoskeleton, cytoplasm, ...
Function calcium ion binding, enzyme binding, ...
External Resources: FuncBase
Expression
Literature Summary: (101 records)
Data Summary: Results (358)    Tissues (244)    Images (69)
Theiler Stages: 1, 2, 3, 4, 5, 10, 11, 12, 14, 15, 17, 19, 20, 21, 22, 23, 25, 28
Assay TypeResults
RNA in situ 200
Northern blot 8
RT-PCR 150
cDNA source data(46)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(59) Genomic(3) cDNA(48) Primer pair(7) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000030086 (Evidence)
Ensembl Gene ModelENSMUSG00000038146 (Evidence)
Entrez Gene18131 (Evidence)
UniGene439741
DFCITC1583064
DoTSDT.486757
NIA Mouse Gene IndexU037659
Consensus CDS ProjectCCDS28614.1
International Mouse Knockout Project StatusNotch3
Sequences
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 sequences
All sequences(17) RefSeq(2) UniProt(1)
Polymorphisms RFLP(2) : SNPs within 2kb(316 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR024600 Domain of unknown function DUF3454, notch
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR022331 Neurogenic locus Notch 3
InterPro IPR008297 Notch
InterPro IPR000800 Notch domain
InterPro IPR010660 Notch, NOD domain
InterPro IPR011656 Notch, NODP domain
Protein Ontology PR:000011334 neurogenic locus notch protein 3
References (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:208857 Ishifune C, et al., Differentiation of CD11c+CX3CR1+ cells in the small intestine requires Notch signaling. Proc Natl Acad Sci U S A. 2014 Apr 22;111(16):5986-91
All references(195)
Other
accession IDs
MGD-MRK-16230, MGI:2147057, MGI:4418502

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
07/15/2014
MGI 5.18
The Jackson Laboratory