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Phenotypes Associated with This Genotype
Genotype
MGI:3589869
Allelic
Composition
Ndst1tm1Je/Ndst1tm1Je
Tg(Tek-cre)1Ywa/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndst1tm1Je mutation (0 available); any Ndst1 mutation (3 available)
Tg(Tek-cre)1Ywa mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type (J:100456)
• chemokine induced-immigration of neutrophils is reduced by about 50% (J:100456)
• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type (J:100456)
• chemokine induced-immigration of neutrophils is reduced by about 50% (J:100456)
• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm2 of shear force (J:100456)
• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm2 of shear force (J:100456)
• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen (J:100456)
• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen (J:100456)
• about 40% fewer neutrophils infiltrate the peritoneal cavity in response to intraperitoneal thioglycollate injection (J:100456)
• about 32% less ear thickening is seen in a model of contact dermatitis induced by oxazolone (J:100456)
• about 40% fewer neutrophils infiltrate the peritoneal cavity in response to intraperitoneal thioglycollate injection (J:100456)
• about 32% less ear thickening is seen in a model of contact dermatitis induced by oxazolone (J:100456)

cellular
• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type (J:100456)
• chemokine induced-immigration of neutrophils is reduced by about 50% (J:100456)
• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type (J:100456)
• chemokine induced-immigration of neutrophils is reduced by about 50% (J:100456)
• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm2 of shear force (J:100456)
• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm2 of shear force (J:100456)
• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen (J:100456)
• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen (J:100456)
• endothelial cell proliferation is reduced in central tendon (J:208012)
• however, mural cell recruitment is normal (J:208012)
• endothelial cell proliferation is reduced in central tendon (J:208012)
• however, mural cell recruitment is normal (J:208012)

hematopoietic system
• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type (J:100456)
• chemokine induced-immigration of neutrophils is reduced by about 50% (J:100456)
• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type (J:100456)
• chemokine induced-immigration of neutrophils is reduced by about 50% (J:100456)
• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm2 of shear force (J:100456)
• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm2 of shear force (J:100456)
• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen (J:100456)
• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen (J:100456)

cardiovascular system
• vascularization defects in the developing diaphragm (J:208012)
• central tendon of the diaphragm at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete (J:208012)
• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5 (J:208012)
• the primary plexus of blood vessels in diaphragmatic muscle shows fewer vascular floors, reduced vascular density, some slender and cord-like capillaries, and capillary density remains reduced at E18.5 (J:208012)
• however capillary density appears normal in the brain, liver, kidney, heart, lung, spleen and thymus (J:208012)
• vascularization defects in the developing diaphragm (J:208012)
• central tendon of the diaphragm at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete (J:208012)
• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5 (J:208012)
• the primary plexus of blood vessels in diaphragmatic muscle shows fewer vascular floors, reduced vascular density, some slender and cord-like capillaries, and capillary density remains reduced at E18.5 (J:208012)
• however capillary density appears normal in the brain, liver, kidney, heart, lung, spleen and thymus (J:208012)
• SLIT3-induced angiogenesis is greatly diminished in cornea micropocket experiments (J:208012)
• SLIT3-induced angiogenesis is greatly diminished in cornea micropocket experiments (J:208012)

embryogenesis
• adults show reduced branches of large vessels in the anterior muscular region of septum transversum (J:208012)
• adults show reduced branches of large vessels in the anterior muscular region of septum transversum (J:208012)

homeostasis/metabolism
• increase in hypoxia in diaphragm (J:208012)
• increase in hypoxia in diaphragm (J:208012)

liver/biliary system
• in most mice, liver is the only herniated organ although in a few cases, the small intestine is involved (J:208012)
• in most mice, liver is the only herniated organ although in a few cases, the small intestine is involved (J:208012)

muscle
• diaphragm covering the liver is thinner at P1 (J:208012)
• vascularization defects in the developing diaphragm (J:208012)
• the primary plexus of blood vessels in diaphragmatic muscle shows fewer vascular floors, reduced vascular density, some slender and cord-like capillaries, and capillary density remains reduced at E18.5 (J:208012)
• increase in apoptosis in the diaphragm tendon (J:208012)
• cell proliferation of tenocytes in the diaphragm is reduced (J:208012)
• diaphragm covering the liver is thinner at P1 (J:208012)
• vascularization defects in the developing diaphragm (J:208012)
• the primary plexus of blood vessels in diaphragmatic muscle shows fewer vascular floors, reduced vascular density, some slender and cord-like capillaries, and capillary density remains reduced at E18.5 (J:208012)
• increase in apoptosis in the diaphragm tendon (J:208012)
• cell proliferation of tenocytes in the diaphragm is reduced (J:208012)
• 40% of mice develop congenital diaphragmatic hernia at P2, with penetrance increasing to 60% in adults (J:208012)
• hernia occurs at the anterior midline of the septum transversum in the diaphragm (J:208012)
• hernia size does not progress with age (J:208012)
• 40% of mice develop congenital diaphragmatic hernia at P2, with penetrance increasing to 60% in adults (J:208012)
• hernia occurs at the anterior midline of the septum transversum in the diaphragm (J:208012)
• hernia size does not progress with age (J:208012)
• muscular region of the diaphragm is thinner at E15.5 (J:208012)
• however, fasciculi in the muscle are organized and sarcomeres appear normal (J:208012)
• muscular region of the diaphragm is thinner at E15.5 (J:208012)
• however, fasciculi in the muscle are organized and sarcomeres appear normal (J:208012)
• the central tendon and liver remain fused at P1 unlike in wild-type where they are completely separated (J:208012)
• decrease in thickness and disorganized fibrils are seen in the primordial tendon at E15.5, indicating that genesis of the central tendon in the diaphragm is disrupted (J:208012)
• central tendon at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete (J:208012)
• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5 (J:208012)
• mice show fewer tip endothelial cells (which guide angiogenic sprouting) in central tendon than in controls (J:208012)
• filopodia of tip cells are fewer in number and much shorter (J:208012)
• the central tendon and liver remain fused at P1 unlike in wild-type where they are completely separated (J:208012)
• decrease in thickness and disorganized fibrils are seen in the primordial tendon at E15.5, indicating that genesis of the central tendon in the diaphragm is disrupted (J:208012)
• central tendon at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete (J:208012)
• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5 (J:208012)
• mice show fewer tip endothelial cells (which guide angiogenic sprouting) in central tendon than in controls (J:208012)
• filopodia of tip cells are fewer in number and much shorter (J:208012)
• collagen bundle in the diaphragm is poorly expressed and disorganized, with fewer tenocytes (J:208012)
• collagen bundle in the diaphragm is poorly expressed and disorganized, with fewer tenocytes (J:208012)

skeleton
• the central tendon and liver remain fused at P1 unlike in wild-type where they are completely separated (J:208012)
• decrease in thickness and disorganized fibrils are seen in the primordial tendon at E15.5, indicating that genesis of the central tendon in the diaphragm is disrupted (J:208012)
• central tendon at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete (J:208012)
• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5 (J:208012)
• mice show fewer tip endothelial cells (which guide angiogenic sprouting) in central tendon than in controls (J:208012)
• filopodia of tip cells are fewer in number and much shorter (J:208012)
• the central tendon and liver remain fused at P1 unlike in wild-type where they are completely separated (J:208012)
• decrease in thickness and disorganized fibrils are seen in the primordial tendon at E15.5, indicating that genesis of the central tendon in the diaphragm is disrupted (J:208012)
• central tendon at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete (J:208012)
• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5 (J:208012)
• mice show fewer tip endothelial cells (which guide angiogenic sprouting) in central tendon than in controls (J:208012)
• filopodia of tip cells are fewer in number and much shorter (J:208012)
• collagen bundle in the diaphragm is poorly expressed and disorganized, with fewer tenocytes (J:208012)
• collagen bundle in the diaphragm is poorly expressed and disorganized, with fewer tenocytes (J:208012)

Mouse Models of Human Disease
OMIM ID Ref(s)
Diaphragmatic Hernia, Congenital 142340 J:208012


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory