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
Human Chr (Location)		19p13.2-p13.1; chr19:15270444-15311792 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human NOTCH3

Alleles and phenotypes

All alleles(17) : Targeted(7) Gene trapped(9) Chemically induced(1)
 

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: (25 annotations)

Process	cell differentiation, forebrain development, ...
Component	integral to membrane, integral to plasma membrane, ...
Function	calcium ion binding, enzyme binding, ...

External Resources: FuncBase

Expression

Literature Summary: (99 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 Type	Results
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 Model	OTTMUSG00000030086 (Evidence)
Ensembl Gene Model	ENSMUSG00000038146 (Evidence)
Entrez Gene	18131 (Evidence)
UniGene	439741
DFCI	TC1583064
DoTS	DT.486757
NIA Mouse Gene Index	U037659
Consensus CDS Project	CCDS28614.1
International Mouse Knockout Project Status	Notch3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030086	VEGA Gene Model | MGI Sequence Detail	46061	C57BL/6J
transcript	OTTMUST00000074537	VEGA | MGI Sequence Detail	8044	Not Applicable
polypeptide	OTTMUSP00000038868	VEGA | MGI Sequence Detail	2318	Not Applicable

All sequences(18) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(2) : SNPs(228 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	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:190886 Morimoto M, et al., Different assemblies of Notch receptors coordinate the distribution of the major bronchial Clara, ciliated and neuroendocrine cells. Development. 2012 Dec 1;139(23):4365-73
All references(187)

Other accession IDs

MGD-MRK-16230, MGI:2147057, MGI:4418502