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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Serpinc1tm1Dwr
targeted mutation 1, Mieke Dewerchin
MGI:3692385
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Serpinc1tm1Dwr/Serpinc1tm1Dwr involves: 129S1/Sv * 129X1/SvJ MGI:3696558
ht2
Serpinc1tm1Dwr/Serpinc1+ involves: 129S1/Sv * 129X1/SvJ MGI:3696561


Genotype
MGI:3696558
hm1
Allelic
Composition
Serpinc1tm1Dwr/Serpinc1tm1Dwr
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Serpinc1tm1Dwr mutation (0 available); any Serpinc1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• frequently die within 24 hours after birth (J:115658)
• frequently die within 24 hours after birth (J:115658)
• only 60% reach weaning age (J:115658)
• only 60% reach weaning age (J:115658)
• beyond weaning, survival remains compromised with death at various ages and only about 30% survival beyond 6 months (J:115658)
• beyond weaning, survival remains compromised with death at various ages and only about 30% survival beyond 6 months (J:115658)

homeostasis/metabolism
• plasma displays low heparin cofactor activity (J:115658)
• 2 of 4 pups at P0 show clots in the heart (J:115658)
• plasma displays low heparin cofactor activity (J:115658)
• 2 of 4 pups at P0 show clots in the heart (J:115658)
• develop spontaneous life-threatening thrombosis, as early as the day of birth; rarely seen at E18.5 (J:115658)
• thormbotic events in adults are most prominent in the heart, liver, and in ocular, placental, and penile vessels (J:115658)
• in neonates, spontaneous death is associated with major thrombosis in the heart (J:115658)
• pentasaccharide does not inhibit thrombus formation as in wild-type when thrombosis is induced (J:115658)
• thrombosis is not seen in other organs nor in the larger vessels like the caval vein, femoral artery and vein, and branchial vein (J:115658)
• develop spontaneous life-threatening thrombosis, as early as the day of birth; rarely seen at E18.5 (J:115658)
• thormbotic events in adults are most prominent in the heart, liver, and in ocular, placental, and penile vessels (J:115658)
• in neonates, spontaneous death is associated with major thrombosis in the heart (J:115658)
• pentasaccharide does not inhibit thrombus formation as in wild-type when thrombosis is induced (J:115658)
• thrombosis is not seen in other organs nor in the larger vessels like the caval vein, femoral artery and vein, and branchial vein (J:115658)
• 6 of 16 adults show massive thrombosis in the atria and/or ventricles that is often associated with leukocyte infiltration (J:115658)
• 6 of 16 adults show massive thrombosis in the atria and/or ventricles that is often associated with leukocyte infiltration (J:115658)

cardiovascular system
• 3 of 14 adults show vessel occlusion in the lungs (J:115658)
• some show ocular vein occlusion (J:115658)
• 50% of sexually active males show occlusion of the dorsal penile vein (J:115658)
• 3 of 14 adults show vessel occlusion in the lungs (J:115658)
• some show ocular vein occlusion (J:115658)
• 50% of sexually active males show occlusion of the dorsal penile vein (J:115658)
• all show massive thrombosis in the heart (J:115658)
• 2 of 4 pups at P0 show clots in the heart (J:115658)
• all show massive thrombosis in the heart (J:115658)
• 2 of 4 pups at P0 show clots in the heart (J:115658)
• 12 of 15 adults show signs of portal hypertension, characterized by nodular regenerative hyperplasia, dilatation of the sinusoids and formation of shunt vessels (J:115658)
• 12 of 15 adults show signs of portal hypertension, characterized by nodular regenerative hyperplasia, dilatation of the sinusoids and formation of shunt vessels (J:115658)

liver/biliary system
• 12 of 15 adults show signs of portal hypertension, characterized by nodular regenerative hyperplasia, dilatation of the sinusoids and formation of shunt vessels (J:115658)
• 12 of 15 adults show signs of portal hypertension, characterized by nodular regenerative hyperplasia, dilatation of the sinusoids and formation of shunt vessels (J:115658)
• presence of neutrophil clusters in the sinusoids and of phagocytosing macrophages in the parenchyme, indicating in inflammatory response in the liver (J:115658)
• presence of neutrophil clusters in the sinusoids and of phagocytosing macrophages in the parenchyme, indicating in inflammatory response in the liver (J:115658)
• 2 of 4 one-day-old pups show infracted zones in the liver with coagulative necrosis, indicating impaired blood flow in the liver (J:115658)
• 2 of 4 one-day-old pups show infracted zones in the liver with coagulative necrosis, indicating impaired blood flow in the liver (J:115658)
• coagulative necrosis in the liver (J:115658)
• coagulative necrosis in the liver (J:115658)
• macrovesicular steatosis, the accumulation of fat in vesicles that displace the cytoplasm and distort the nucleus (J:115658)
• macrovesicular steatosis, the accumulation of fat in vesicles that displace the cytoplasm and distort the nucleus (J:115658)
• liver shows nodular regenerative hyperplasia (J:115658)
• liver shows nodular regenerative hyperplasia (J:115658)

immune system
• presence of neutrophil clusters in the sinusoids and of phagocytosing macrophages in the parenchyme, indicating in inflammatory response in the liver (J:115658)
• presence of neutrophil clusters in the sinusoids and of phagocytosing macrophages in the parenchyme, indicating in inflammatory response in the liver (J:115658)

hematopoietic system

vision/eye
• 26% of males and 47% of females display severe degeneration of the eyes with blood accumulation in the front part of the eye (J:115658)
• 26% of males and 47% of females display severe degeneration of the eyes with blood accumulation in the front part of the eye (J:115658)
• when eye degeneration is observed, occasional perforation of the cornea is seen (J:115658)
• when eye degeneration is observed, occasional perforation of the cornea is seen (J:115658)
• when eye degeneration is observed, disruption of the retina is often seen (J:115658)
• when eye degeneration is observed, disruption of the retina is often seen (J:115658)
• in mutants with eye degeneration, the retinal layer is not seen (J:115658)
• in mutants with eye degeneration, the retinal layer is not seen (J:115658)
• in mutants with eye degeneration, the pigment epithelium is not seen (J:115658)
• in mutants with eye degeneration, the pigment epithelium is not seen (J:115658)
• in mutants with eye degeneration, the sclera is not seen (J:115658)
• in mutants with eye degeneration, the sclera is not seen (J:115658)
• in mutants with eye degeneration, the choroid is not seen (J:115658)
• in mutants with eye degeneration, the choroid is not seen (J:115658)

embryogenesis
• severe thrombosis in the placenta of pregnant females, irrespective of the embryo genotype (J:115658)
• severe thrombosis in the placenta of pregnant females, irrespective of the embryo genotype (J:115658)

reproductive system
• severe thrombosis in the penile veins of sexually active males (J:115658)
• severe thrombosis in the penile veins of sexually active males (J:115658)
• 50% of all sexually active males develop irreversible priapism due to occlusion of the dorsal penile vein and impaired drainage and thrombosis of the corpora cavernosa (J:115658)
• 50% of all sexually active males develop irreversible priapism due to occlusion of the dorsal penile vein and impaired drainage and thrombosis of the corpora cavernosa (J:115658)
• most likely due to placental thrombosis (J:115658)
• most likely due to placental thrombosis (J:115658)

renal/urinary system
• severe thrombosis in the penile veins of sexually active males (J:115658)
• severe thrombosis in the penile veins of sexually active males (J:115658)

pigmentation
• in mutants with eye degeneration, the pigment epithelium is not seen (J:115658)
• in mutants with eye degeneration, the pigment epithelium is not seen (J:115658)

Mouse Models of Human Disease
OMIM ID Ref(s)
Antithrombin III Deficiency; AT3D 613118 J:115658




Genotype
MGI:3696561
ht2
Allelic
Composition
Serpinc1tm1Dwr/Serpinc1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Serpinc1tm1Dwr mutation (0 available); any Serpinc1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• spontaneous death of neonates is occasionally observed (J:115658)
• spontaneous death of neonates is occasionally observed (J:115658)

homeostasis/metabolism
• a few heterozygous neonates show a small clot in the heart (J:115658)
• a few heterozygous neonates show a small clot in the heart (J:115658)

cardiovascular system
• a few heterozygous neonates show an occluded lung vessel (J:115658)
• a few heterozygous neonates show an occluded lung vessel (J:115658)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory