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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 western clawed frog; 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; chr8:117799363-118111819 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human EXT1
Mutations,
alleles, and
phenotypes
All mutations/alleles(28) : Gene trapped(18) Targeted(10)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions in this gene display a lethal phenotype.
 
Human Diseases Modeled Using Mouse Ext1 (3)    Alleles Annotated to Human Diseases(1)   
Interactions
Ext1 interacts with 458 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (13 records)
Data Summary: Results (356)    Tissues (164)    Images (48)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 356
cDNA source data(85)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(86) cDNA(85) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000019491 (Evidence)
Ensembl Gene ModelENSMUSG00000061731 (Evidence)
Entrez Gene14042 (Evidence)
UniGene309395
DFCITC1659190, TC1655744, TC1578223
DoTSDT.97366800, DT.529500
NIA Mouse Gene IndexU036169
EC2.4.1.225, 2.4.1.224
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(42) RefSeq(2) UniProt(7)
Polymorphisms
RFLP(1) : SNPs within 2kb(2152 from dbSNP Build 137)
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:211254 Nonaka M, et al., Synthetic di-sulfated iduronic acid attenuates asthmatic response by blocking T-cell recruitment to inflammatory sites. Proc Natl Acad Sci U S A. 2014 Jun 3;111(22):8173-8
All references(76)
Disease annotation references (3)
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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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory