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Ext1 Gene Detail
Summary
  • Symbol
    Ext1
  • Name
    exostoses (multiple) 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:894663
    NCBI Gene: 14042
  • Gene Overview
    MyGene.info: EXT1
Location & Maps
more
  • Sequence Map
    Chr15:53064038-53346159 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      282122 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 20.00 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EXT1, exostosin glycosyltransferase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EXT1, exostosin glycosyltransferase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EXT, LGCR, LGS, TRPS2, TTV
  • Links
    NCBI Gene ID: 2131
    neXtProt AC: NX_Q16394

  • Chr Location
    8q24.11; chr8:117799363-118111819 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 30957
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: EXT1
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Ext1 mouse models; 2 with human EXT1 associations

Human Disease Mouse Models
       Exostoses, Multiple, Type I   OMIM: 133700 View 1 model
       Autism   OMIM: 209850 View 1 model
Peters Anomaly   OMIM: 604229 View 1 model
       Chondrosarcoma   OMIM: 215300
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 8 alleles in 11 genetic backgrounds
    6 phenotypes from multigenic genotypes
    51 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    32
  • Chemically induced (other)
    3
  • Gene trapped
    18
  • Radiation induced
    1
  • Targeted
    10
  • Genomic Mutations
    5 involving Ext1
  • Incidental Mutations
Mice homozygous for disruptions in this gene display a lethal phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    2142 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 88
    cDNA 86
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:2145899
References
more
  • Summaries
    All 79
    Developmental Gene Expression 13
    Diseases 4
    Gene Ontology 8
    Phenotypes 51
  • Earliest
    J:48118 Hennekam RC, Hereditary multiple exostoses. J Med Genet. 1991 Apr;28(4):262-6
  • Latest
    J:230966 Coulson-Thomas VJ, et al., Loss of corneal epithelial heparan sulfate leads to corneal degeneration and impaired wound healing. Invest Ophthalmol Vis Sci. 2015 May;56(5):3004-14

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
08/23/2016
MGI 6.05
The Jackson Laboratory