Mouse Genome Informatics
hm1
    F13a1tm1Gdi/F13a1tm1Gdi
involves: 129P2/OlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Altered response to myocardial infraction in F13a1tm1Gdi/F13a1tm1Gdi mice

mortality/aging
• all die within 5 days after myocardial infarction from left ventricular rupture (J:121502)
• daily intravenous replenishment of F13a1 for 5 days restores survival (J:121502)

cardiovascular system
• intrauterine bleeding (J:86919)
• following myocardial infarction, intrathoracic hematoma is seen adjacent to the experimental anterolateral infarction (J:129358)
• observed in some male mice
• mutants subjected to coronary ligation die within 5 days and exhibit hemothorax, myocardial rupture of the left ventricular wall, and reduced inflammatory response in the infarct (J:121502)

reproductive system
• intrauterine fetal death due to placental hemorrhage (J:86919)

respiratory system
• observed in some male mice

homeostasis/metabolism
• mutants subjected to coronary ligation die within 5 days and exhibit hemothorax, myocardial rupture of the left ventricular wall, and reduced inflammatory response in the infarct (J:121502)

Mouse Models of Human Disease
OMIM IDRef(s)
Factor XIII, A Subunit, Deficiency of 613225 J:86919


Mouse Genome Informatics
hm2
    F13a1tm1Gdi/F13a1tm1Gdi
involves: 129P2/OlaHsd * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• ~30% of homozygotes die within 12 months after birth
• in these mice, bleeding time is only modestly prolonged by a factor of 2, suggesting that impaired clot integrity and stability, rather than delayed clot formation, may contrubute to increased mortality
• an increase in maternal lethality (~50%) is observed in female homozygotes during gestation

cardiovascular system
• homozygotes display spontaneous fatal hemorrhage, including hemothorax, hemoperitoneum, and subcutaneous bleeding

homeostasis/metabolism
N
• homozygotes show no significant differences in the extent of platelet aggregation induced by thrombin, ADP, or collagen relative to wild-type control mice (J:87293)
• in vitro, the global coagulation properties of blood from homozygous mutant mice, including activated partial thromboplastin time (aPTT), prothrombin time (PT) and thrombin time (TT) are indistinguishable from those of control mice (J:87293)
• in vitro, thrombelastography indicates impaired clot strength and rapid degradation of the mechanical properties of the clot in blood from mutant mice relative to 129 or CBA control mice
• however, replacement of mutant mice with human plasma F13A1 restores the mechanical properties of the clot to near normal values in a dose-dependent manner
• mean tail-tip bleeding time is significantly increased in homozygous mutant mice relative to 129 or CBA control mice
• however, replacement of mutant mice with human plasma F13A1 (200 U/kg i.v.) increases plasma activity to normal levels of ~135% and restores tail-tip bleeding time to within normal range

reproductive system
• female homozygotes are fertile; however, pregnancy is severely impaired (J:87293)

respiratory system

hematopoietic system
N
• homozygotes display no significant differences in platelet number, total white blood cell count, or erythrocyte number relative to wild-type mice (J:87293)

Mouse Models of Human Disease
OMIM IDRef(s)
Factor XIII, A Subunit, Deficiency of 613225 J:87293


Mouse Genome Informatics
ht3
    F13a1tm1Gdi/F13a1+
involves: 129P2/OlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• all die within 5 days after myocardial infarction from left ventricular rupture

cardiovascular system
• mutants subjected to coronary ligation die within 5 days

homeostasis/metabolism
• mutants subjected to coronary ligation die within 5 days