Mouse Genome Informatics
hm1
    Serpinc1tm1Dwr/Serpinc1tm1Dwr
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• frequently die within 24 hours after birth
• only 60% reach weaning age
• beyond weaning, survival remains compromised with death at various ages and only about 30% survival beyond 6 months

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

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

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
• presence of neutrophil clusters in the sinusoids and of phagocytosing macrophages in the parenchyme, indicating in inflammatory response in the liver
• 2 of 4 one-day-old pups show infracted zones in the liver with coagulative necrosis, indicating impaired blood flow in the liver
• coagulative necrosis in the liver
• macrovesicular steatosis, the accumulation of fat in vesicles that displace the cytoplasm and distort the nucleus
• liver shows nodular regenerative hyperplasia

immune system
• presence of neutrophil clusters in the sinusoids and of phagocytosing macrophages in the parenchyme, indicating in inflammatory response in the liver

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
• in mutants with eye degeneration, the pigment epithelium is not seen
• when eye degeneration is observed, occasional perforation of the cornea is seen
• when eye degeneration is observed, disruption of the retina is often seen
• in mutants with eye degeneration, the retinal layer is not seen
• in mutants with eye degeneration, the sclera is not seen
• in mutants with eye degeneration, the choroid is not seen

embryogenesis
• severe thrombosis in the placenta of pregnant females, irrespective of the embryo genotype

reproductive system
• 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)
• most likely due to placental thrombosis

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

pigmentation
• in mutants with eye degeneration, the pigment epithelium is not seen

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


Mouse Genome Informatics
ht2
    Serpinc1tm1Dwr/Serpinc1+
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• spontaneous death of neonates is occasionally observed

homeostasis/metabolism
• a few heterozygous neonates show a small clot in the heart

cardiovascular system
• a few heterozygous neonates show an occluded lung vessel