Phenotypes Associated with This Genotype

Genotype
MGI:3795785

• Allelic Composition: Fermt3^tm1Ref/Fermt3^tm1Ref
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

postnatal lethality, complete penetrance ( J:133659 )

• mice die within a week of birth

skeleton

osteopetrosis ( J:133659 )

• necropsy reveals mice have pronounced osteopetrosis at the time of death

hematopoietic system

anemia ( J:145476 )

abnormal erythrocyte morphology ( J:145476 )

decreased erythrocyte cell number ( J:145476 )

• fewer cells seen in blood smears

increased nucleated erythrocyte cell number ( J:145476 )

• increase in nucleated erythroblasts

anisopoikilocytosis ( J:145476 )

• irregular size and shape of erythroblasts

• invaginations and protuberances of the cell membrane are detected by scanning electron microscopy

abnormal platelet activation ( J:133659 )

• platelets fail to bind to injured mesenteric arterioles in lethally irradiated wild-type mice that receive mutant fetal liver cells

• under static conditions, platelets bind to fibrinogen but only form transient lamellipodia and fail to spread over the coated surface during a 45 minute period

decreased platelet aggregation ( J:133659 )

• platelets change shape but fail to aggregate in vitro under sheer stress conditions to all stimuli tested including ADP, thrombin, and collagen

• platelets will aggregate on fibrinogen when Mn ions are used to bypass cellular activation of alpha-2bBeta3 integrin

homeostasis/metabolism

abnormal platelet activation ( J:133659 )

• platelets fail to bind to injured mesenteric arterioles in lethally irradiated wild-type mice that receive mutant fetal liver cells

• under static conditions, platelets bind to fibrinogen but only form transient lamellipodia and fail to spread over the coated surface during a 45 minute period

decreased platelet aggregation ( J:133659 )

• platelets change shape but fail to aggregate in vitro under sheer stress conditions to all stimuli tested including ADP, thrombin, and collagen

• platelets will aggregate on fibrinogen when Mn ions are used to bypass cellular activation of alpha-2bBeta3 integrin

abnormal thrombosis ( J:133659 )

• platelets fail to form thrombi on injured mesenteric arterioles in lethally irradiated wild-type mice that receive mutant fetal liver cells

increased bleeding time ( J:133659 )

• lethally irradiated wild-type mice that receive mutant fetal liver cells fail to stop bleeding within 15 minutes when tails are nicked compared to a mean of 10 minutes for mice that receive wild-type fetal liver cells

digestive/alimentary system

gastrointestinal hemorrhage ( J:133659 )

• mice have severe hemorrhages in the gut at the time of death and during development

nervous system

intracranial hemorrhage ( J:133659 )

• mice have severe hemorrhages in the brain at the time of death and during development

cardiovascular system

hemorrhage ( J:145476 )

• suffer from severe bleeding

internal hemorrhage ( J:133659 )

• mice have severe hemorrhages in the bladder at the time of death and during development

gastrointestinal hemorrhage ( J:133659 )

• mice have severe hemorrhages in the gut at the time of death and during development

intracranial hemorrhage ( J:133659 )

• mice have severe hemorrhages in the brain at the time of death and during development

integument

pallor ( J:145476 )

petechiae ( J:133659 )

• hemorrhages occur in the skin of mice at the time of death and during development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
leukocyte adhesion deficiency 3		DOID:0110912	OMIM:612840	J:146783