Phenotypes associated with this allele

• Allele Symbol: F11^tm1Gjb
• Allele Name: targeted mutation 1, George J Broze
• Allele ID: MGI:2384015
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	F11^tm1Gjb/F11^tm1Gjb	B6.129X1-F11^tm1Gjb	MGI:3721104
hm2	F11^tm1Gjb/F11^tm1Gjb	involves: 129X1/SvJ * C57BL/6	MGI:3665566
cx3	F11^tm1Gjb/F11^tm1Gjb Proc^tm1Fjc/Proc^tm1Fjc	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3665568

Genotype
MGI:3721104

hm1

• Allelic Composition: F11^tm1Gjb/F11^tm1Gjb
• Genetic Background: B6.129X1-F11^tm1Gjb

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

nervous system

decreased susceptibility to ischemic brain injury ( J:123758 )

• following transient cerebral ischemia, fibrin accumulation is less than in wild-type mice

• following transient cerebral ischemia, ischemic neurodegeneration associated with occlusions of vessel lumina is less severe than in wild-type mice and fewer occlusions are detected

decreased cerebral infarct size ( J:123758 )

• following transient cerebral ischemia, infarct size is reduced (27+/-24 mm³ compared to 46+/-21 mm³ in wild-type mice)

homeostasis/metabolism

decreased susceptibility to ischemic brain injury ( J:123758 )

• following transient cerebral ischemia, fibrin accumulation is less than in wild-type mice

• following transient cerebral ischemia, ischemic neurodegeneration associated with occlusions of vessel lumina is less severe than in wild-type mice and fewer occlusions are detected

decreased cerebral infarct size ( J:123758 )

• following transient cerebral ischemia, infarct size is reduced (27+/-24 mm³ compared to 46+/-21 mm³ in wild-type mice)

Genotype
MGI:3665566

hm2

• Allelic Composition: F11^tm1Gjb/F11^tm1Gjb
• Genetic Background: involves: 129X1/SvJ * C57BL/6

nervous system

decreased susceptibility to ischemic brain injury ( J:123758 )

• after transient middle cerebral artery occlusion, the volume of infarcted brain is less than in controls

• reduced fibrin formation in ischemic vessels

homeostasis/metabolism

decreased platelet aggregation ( J:100529 )

• defect in the formation and stabilization of platelet-rich occlusive thrombi after injury

increased partial thromboplastin time ( J:40270 )

• activated partial thromboplastin times markedly prolonged (moderately so in heterozygotes)

• tail bleeding times slightly but not significantly increased over controls

decreased susceptibility to ischemic brain injury ( J:123758 )

• after transient middle cerebral artery occlusion, the volume of infarcted brain is less than in controls

• reduced fibrin formation in ischemic vessels

hematopoietic system

decreased platelet aggregation ( J:100529 )

• defect in the formation and stabilization of platelet-rich occlusive thrombi after injury

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
factor XI deficiency		DOID:2229	OMIM:612416	J:40270

Genotype
MGI:3665568

cx3

• Allelic Composition: F11^tm1Gjb/F11^tm1Gjb; Proc^tm1Fjc/Proc^tm1Fjc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

premature death ( J:67398 )

• animals surviving neonatal period either died or were euthanized between 13 and 94 days of age

• oldest survivor euthanized at 94 days of age with severe inflammation, edema, and gangrene in extremities

neonatal lethality, incomplete penetrance ( J:67398 )

• only 8 double homozygotes survived neonatal lethality due to coagulopathy typical of Proc^tm1Fjc homozygosity

behavior/neurological

decreased locomotor activity ( J:67398 )

• sedentary

growth/size/body

enlarged heart ( J:67398 )

postnatal growth retardation ( J:67398 )

• severe

respiratory system

abnormal respiratory system morphology ( J:67398 )

abnormal pulmonary alveolus morphology ( J:67398 )

• consolidation

• hemorrhage

• fibroblast infiltration of alveolar space

thick pulmonary interalveolar septum ( J:67398 )

abnormal trachea morphology ( J:67398 )

• degeneration of peritracheal muscle and fat

abnormal respiratory system physiology ( J:67398 )

lung hemorrhage ( J:67398 )

• hemorrhagic lesions

lung inflammation ( J:67398 )

• acute and chronic inflammation

• perivascular lymph vessels are distended

respiratory distress ( J:67398 )

cardiovascular system

increased vascular endothelial cell number ( J:67398 )

• arterial neointimal formation

abnormal heart morphology ( J:67398 )

myocardial fiber degeneration ( J:67398 )

• myocardial degeneration

myocardium necrosis ( J:67398 )

• multifocal vacuolization and necrosis

enlarged heart ( J:67398 )

cardiac fibrosis ( J:67398 )

• in atria

abnormal cardiovascular system physiology ( J:67398 )

• ventricular infarction

• atrial clotting

abnormal lymph circulation ( J:67398 )

• significant amounts of lymphatic fluid sometimes accumulate in the thorax

internal hemorrhage ( J:67398 )

• in various internal organs and leg muscles

• in bladder at E17.5

lung hemorrhage ( J:67398 )

• hemorrhagic lesions

intracranial hemorrhage ( J:67398 )

• in the brain and skull plate

• hemorrhage beneath the skull plate seen at E17.5

liver hemorrhage ( J:67398 )

• hemorrhagic cysts often seen at the edges of the liver

lymph node hemorrhage ( J:67398 )

• enlarged lymph nodes with areas of hemorrhage

immune system

abnormal lymph circulation ( J:67398 )

• significant amounts of lymphatic fluid sometimes accumulate in the thorax

lymph node hemorrhage ( J:67398 )

• enlarged lymph nodes with areas of hemorrhage

abnormal neutrophil morphology ( J:67398 )

• hypersegmentation

decreased neutrophil cell number ( J:67398 )

decreased leukocyte cell number ( J:67398 )

abnormal lymph node morphology ( J:67398 )

abnormal lymph node cortex morphology ( J:67398 )

• areas of atrophy and edema

enlarged lymph nodes ( J:67398 )

• with areas of hemorrhage

lung inflammation ( J:67398 )

• acute and chronic inflammation

• perivascular lymph vessels are distended

hematopoietic system

anisocytosis ( J:67398 )

increased number of Howell-Jolly bodies ( J:67398 )

• Howell-Jolly bodies sometimes seen

abnormal neutrophil morphology ( J:67398 )

• hypersegmentation

decreased neutrophil cell number ( J:67398 )

decreased leukocyte cell number ( J:67398 )

reticulocytosis ( J:67398 )

homeostasis/metabolism

abnormal thrombosis ( J:67398 )

• near truncus pulmonalis

• occasionally see significant thrombi in the larger blood vessels

• intravascular thrombosis in liver

liver/biliary system

liver hemorrhage ( J:67398 )

• hemorrhagic cysts often seen at the edges of the liver

abnormal liver morphology ( J:67398 )

• areas of hyperplasia, mineralization and hemorrhage

hepatic necrosis ( J:67398 )

• seen to varying degrees at E17.5

liver fibrosis ( J:67398 )

• fibrotic tissue often seen on edges of the liver

nervous system

intracranial hemorrhage ( J:67398 )

• in the brain and skull plate

• hemorrhage beneath the skull plate seen at E17.5

muscle

myocardial fiber degeneration ( J:67398 )

• myocardial degeneration

myocardium necrosis ( J:67398 )

• multifocal vacuolization and necrosis

cellular

gangrene ( J:67398 )

• gangrene seen in the extremities (nose, tail and paws) of oldest survivor euthanized at 94 days of age with severe inflammation and edema