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Ext1 Gene Detail
 Symbol
Name
ID
Ext1
exostoses (multiple) 1
MGI:894663

Nomenclature History
Genetic Map
Chromosome 15
26.55 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 2)

Sequence Map
Chr15:52895593-53177714 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Ext1 ± 2 cM)
TreeFam: TF314231
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000019491 VEGA Gene Model | MGI Sequence Detail 282122 C57BL/6J ± Kb
transcript NM_010162 RefSeq | MGI Sequence Detail 3478 C57BL/6
polypeptide P97464 UniProt | EBI | MGI Sequence Detail 746 Not Applicable
For the selected sequences
All sequences(22)
Alleles
and
phenotypes 		All alleles(22) : Targeted, other(4) Gene trapped(18)
Mice homozygous for disruptions in this gene display a lethal phenotype.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)  
Polymorphisms RFLP(1) SNPs within 2kb(1401 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process endoderm development, gastrulation...
Component endoplasmic reticulum, Golgi apparatus...
Function glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity...
External Resources: FuncBase
Expression Literature Summary: (9 records)
Data Summary: Assays (3)    Results (38)    Tissues (38)    Images (9)
Theiler Stages: 9,11,13,17,19,21,24
  Assay Type Assays   Results
      RNA in situ 3   38
cDNA source data(89)
External Resources: Allen Brain Atlas  GEO  ArrayExpress 
Molecular
reagents 		All nucleic(90) cDNA(89) Primer pair(1)
Microarray probesets(2)
Other database
links
EC 2.4.1.224, 2.4.1.225
Ensembl Gene Model ENSMUSG00000061731
DoTS DT.529500, DT.97366800
Consensus CDS Project CCDS27466.1
UniGene 309395
DFCI TC1578223, TC1655744, TC1659190
NIA Mouse Gene Index U036169
Entrez Gene 14042
VEGA Gene Model OTTMUSG00000019491
International Mouse Knockout Project Status Ext1
Protein
domains
InterPro ID Description
IPR004263 Exostosin-like
IPR015338 EXTL2, alpha-1,4-N-acetylhexosaminyltransferase
Graphical View of Protein Domain Structure
References
(Earliest) J:48118 Hennekam RC, "Hereditary multiple exostoses." J Med Genet 1991 Apr;28(4):262-6
(Latest) J:152572 Iwao K et al., "Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-beta2 signaling." J Clin Invest 2009 Jul;119(7):1997-2008
All references(31)
Other
accession IDs 		MGI:2145899
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
02/06/2010
MGI_4.32
Web browser compatibility 		The Jackson Laboratory