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Literature summary for 2.4.1.225 extracted from

  • Huegel, J.; Mundy, C.; Sgariglia, F.; Nygren, P.; Billings, P.C.; Yamaguchi, Y.; Koyama, E.; Pacifici, M.
    Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in hereditary multiple exostoses (2013), Dev. Biol., 377, 100-112.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene EXT1, creation of loxP-modified Ext1 allele and establishment of the Ext1 floxed mouse line (Ext1flox/flox), expression of the enzyme in Gdf-5-Cre transgenic mice, semiquantitative real-time PCR enzyme expression analysis Mus musculus

Organism

Organism UniProt Comment Textmining
Mus musculus P97464 gene EXT1
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Source Tissue

Source Tissue Comment Organism Textmining
C3H10T1/2 cell
-
 Mus musculus
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mesenchymal cell
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 Mus musculus
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Synonyms

Synonyms Comment Organism
exostosin-1
-
 Mus musculus
EXT1
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 Mus musculus

General Information

General Information Comment Organism
malfunction ectopic cartilage forms in Ext1-deficient mouse embryo long bones, phenotype overview. perichondrium phenotype and border function regulation is deregulated in hereditary multiple exostoses. Ext1 deficiency stimulates cartilage formation Mus musculus
physiological function perichondrium phenotype and border function are deranged by Ext1 and heparan sulfate in developing long bones, and in ectopic cartilage formation Mus musculus