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Ext1
Gene Detail
 Symbol
Name
ID
Ext1
exostoses (multiple) 1
MGI:894663
Feature Type protein coding gene
Genetic Map
Chromosome 15
20.00 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr15:53064038-53346159 bp, - strand
From VEGA annotation of GRCm38

  282122 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology 		HomoloGene:30957  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ext1
Human
homologs
Human Homolog EXT1, exostosin glycosyltransferase 1
NCBI Gene ID 2131
neXtProt AC  NX_Q16394
Human Synonyms  EXT, LGCR, LGS, TRPS2, TTV
Human Chr (Location)  8q24.11; chr8:118811602-119124058 (-)  GRCh37.p10
Disease Associations  (2) Diseases Associated with Human EXT1
Alleles
and
phenotypes 		All alleles(28) : Targeted(10) Gene trapped(18)
 
Mice homozygous for disruptions in this gene display a lethal phenotype.
 
Human Diseases Modeled Using Mouse Ext1 (3)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications 		All GO classifications: (29 annotations)
Process axon guidance, brain development, ...
Component endoplasmic reticulum, Golgi apparatus, ...
Function acetylglucosaminyltransferase activity, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, ...
External Resources: FuncBase
Expression Literature Summary: (13 records)
Data Summary: Results (356)    Tissues (164)    Images (48)
Theiler Stages: 9, 11, 13, 17, 19, 21, 22, 23, 24
Assay TypeResults
RNA in situ 356
cDNA source data(90)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents 		All nucleic(91) cDNA(90) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000019491 (Evidence)
Ensembl Gene ModelENSMUSG00000061731 (Evidence)
Entrez Gene14042 (Evidence)
UniGene309395
DFCITC1578223, TC1655744, TC1659190
DoTSDT.529500, DT.97366800
NIA Mouse Gene IndexU036169
EC2.4.1.224, 2.4.1.225
Consensus CDS ProjectCCDS27466.1
International Mouse Knockout Project StatusExt1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019491 VEGA Gene Model | MGI Sequence Detail 282122 C57BL/6J ±  kb
transcript OTTMUST00000046534 VEGA | MGI Sequence Detail 7663 Not Applicable 
polypeptide OTTMUSP00000021013 VEGA | MGI Sequence Detail 746 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(2) UniProt(4)
Polymorphisms RFLP(1) : SNPs(1382 from dbSNP Build 128)
Protein-related
information
ResourceIDDescription
InterPro IPR004263 Exostosin-like
InterPro IPR015338 EXTL2, alpha-1,4-N-acetylhexosaminyltransferase
Protein Ontology PR:000007268 exostosin-1
References (Earliest) J:48118 Hennekam RC, Hereditary multiple exostoses. J Med Genet. 1991 Apr;28(4):262-6
(Latest) J:182220 Irie F, et al., Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate. Proc Natl Acad Sci U S A. 2012 Mar 27;109(13):5052-6
All references(70)
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
06/05/2013
MGI 5.13 		The Jackson Laboratory