Literature summary for 2.4.1.224 extracted from

Matsumoto, Y.; Matsumoto, K.; Irie, F.; Fukushi, J.; Stallcup, W.B.; Yamaguchi, Y.
Conditional ablation of the heparan sulfate-synthesizing enzyme Ext1 leads to dysregulation of bone morphogenic protein signaling and severe skeletal defects (2010), J. Biol. Chem., 285, 19227-19234.

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Protein Variants

Protein Variants	Comment	Organism
additional information	generation of conditional Ext1 mutant mice by crossing the Ext1flox allele and the Prx1-Cre transgene	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	-	-	-
Mus musculus C57BL/6	-	-	-

Synonyms

Synonyms	Comment	Organism
EXT1	-	Mus musculus

General Information

General Information	Comment	Organism
malfunction	conditional Ext1 mutant mice display severe limb skeletal defects, including shortened and malformed limb bones, oligodactyly, and fusion of joints. the segregation of the pSmad1/5/8-expressing chondrocytes and fibronectin-expressing perichondrium-like cells surrounding chondrocyte nodules is disrupted in mutant micromass cultures, Ext2-mutant phenotypes, detailed overview	Mus musculus
physiological function	Ext1 encodes an essential glycosyltransferase for heparan sulfate synthesis, heparan sulfate is essential for patterning of limb skeletal elements	Mus musculus

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Release 2023.1 (January 2023)