| 15531 |
Q3UHN9 |
NDST1_MOUSE |
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 (Glucosaminyl N-deacetylase/N-sulfotransferase 1) (NDST-1) (N-heparan sulfate sulfotransferase 1) (N-HSST 1) ([Heparan sulfate]-glucosamine N-sulfotransferase 1) (HSNST 1) [Includes: Heparan |
DISRUPTION PHENOTYPE |
Mice survive until birth but are cyanotic and die neonatally in a condition resembling respiratory distress syndrome. In addition, a minor proportion of mice embryos die during the embryonic period. Mutant mice display cerebral hypoplasia and craniofacial defects, disturbed Ca(2+) kinetics in myotubes. They also display deficiencies L-selectin and chemokine-mediated neutrophil trafficking during inflammatory responses. {ECO:0000269|PubMed:10664446, ECO:0000269|PubMed:10852901, ECO:0000269|PubMed:12692154, ECO:0000269|PubMed:16020517, ECO:0000269|PubMed:16056228}. |