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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Ext1 ± 2 cM)

Gene Tree: Ext1

Human ortholog

EXT1 exostosin glycosyltransferase 1 NCBI Gene ID 2131
Human Synonyms: EXT, LGCR, LGS, TRPS2, TTV
Human Chr8:118811602-119124058 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human EXT1 (2)

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: (30 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 Type	Results
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 Model	OTTMUSG00000019491 (Evidence)
Ensembl Gene Model	ENSMUSG00000061731 (Evidence)
Entrez Gene	14042 (Evidence)
UniGene	309395
DFCI	TC1578223, TC1655744, TC1659190
DoTS	DT.529500, DT.97366800
NIA Mouse Gene Index	U036169
EC	2.4.1.224, 2.4.1.225
Consensus CDS Project	CCDS27466.1
International Mouse Knockout Project Status	Ext1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019491	VEGA Gene Model | MGI Sequence Detail	282122	C57BL/6J
transcript	OTTMUST00000046534	VEGA | MGI Sequence Detail	7663	Not Applicable
polypeptide	OTTMUSP00000021013	VEGA | MGI Sequence Detail	746	Not Applicable

All sequences(39) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(1382 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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