Phenotypes Associated with This Genotype

Genotype
MGI:2684306

• Allelic Composition: F13a1^tm1Gdi/F13a1^tm1Gdi
• Genetic Background: involves: 129P2/OlaHsd * CBA/Ca

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:87293 )

• ~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

pregnancy-related premature death ( J:87293 )

♀ • an increase in maternal lethality (~50%) is observed in female homozygotes during gestation

integument

subcutaneous hemorrhage ( J:87293 )

cardiovascular system

hemorrhage ( J:87293 )

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

hemothorax ( J:87293 )

hemoperitoneum ( J:87293 )

subcutaneous hemorrhage ( J:87293 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:87293 )

N • homozygotes show no significant differences in the extent of platelet aggregation induced by thrombin, ADP, or collagen relative to wild-type control mice

N • 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

abnormal blood coagulation ( 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

increased bleeding time ( J:87293 )

• 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

abnormal pregnancy ( J:87293 )

♀ • female homozygotes are fertile; however, pregnancy is severely impaired

respiratory system

hemothorax ( J:87293 )

hematopoietic system

hematopoietic system phenotype ( J:87293 )

N • homozygotes display no significant differences in platelet number, total white blood cell count, or erythrocyte number relative to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
factor XIII deficiency		DOID:2211	OMIM:613225 OMIM:613235	J:87293