Phenotypes associated with this allele

• Allele Symbol: Scube1^tm2.1Rbya
• Allele Name: targeted mutation 2.1, Ruey-Bing Yang
• Allele ID: MGI:5705524
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scube1^tm2.1Rbya/Scube1^tm2.1Rbya	Not Specified	MGI:5790716

Genotype
MGI:5790716

hm1

• Allelic Composition: Scube1^tm2.1Rbya/Scube1^tm2.1Rbya
• Genetic Background: Not Specified

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:223899 )

N • homozygotes show no spontaneous thrombosis

decreased platelet aggregation ( J:223899 )

• homozygotes show decreased ADP- and collagen-induced platelet-rich plasma (PRP) aggregation relative to wild-type controls

• PRP aggregation in response to the thrombin agonist PAR-4 peptide is normal and washed platelets show normal morphological features, aggregation, and signaling

• platelet and plasma exchange studies using washed platelets show that wild-type platelets aggregate less in SCUBE1-depleted platelet-poor plasma (PPP) than in SCUBE1-positive PPP whereas mutant platelets aggregate more in SCUBE1-positive PPP than in SCUBE1-depleted PPP

• addition of recombinant SCUBE1 at normal plasma level (150 ng/mL) restores ADP-induced PRP aggregation to the level in SCUBE1-positive PRP samples or the level in mutant platelets mixed with SCUBE1-positive PPP

decreased susceptibility to induced thrombosis ( J:223899 )

• following collagen/epinephrine-induced fatal pulmonary thromboembolism, homozygotes do not develop thrombi as rapidly or as extensively as wild-type controls, indicating significant protection against arterial thrombosis

• homozygotes show impaired in vitro thrombus formation under flow conditions, as shown by a 47% reduction in the area covered by thrombi and a 56% reduction in thrombus volume relative to wild-type controls

• following thrombus induction by ferric chloride injury and denudation of the carotid artery, average size of arterial thrombus is 35% less than that in wild-type controls

increased bleeding time ( J:223899 )

• after tail-tip amputation, mean bleeding time is highly variable and mildly prolonged relative to wild-type controls (140 +/- 17.5 sec versus 65 +/ 5.6 sec, respectively)

• however, neither activated partial thromboplastin time nor prothrombin time is significantly altered

hematopoietic system

hematopoietic system phenotype ( J:223899 )

N • homozygotes show normal development of hematopoietic lineages with no detectable differences in platelet formation or maturation relative to wild-type controls

decreased platelet aggregation ( J:223899 )

• homozygotes show decreased ADP- and collagen-induced platelet-rich plasma (PRP) aggregation relative to wild-type controls

• PRP aggregation in response to the thrombin agonist PAR-4 peptide is normal and washed platelets show normal morphological features, aggregation, and signaling

• platelet and plasma exchange studies using washed platelets show that wild-type platelets aggregate less in SCUBE1-depleted platelet-poor plasma (PPP) than in SCUBE1-positive PPP whereas mutant platelets aggregate more in SCUBE1-positive PPP than in SCUBE1-depleted PPP

• addition of recombinant SCUBE1 at normal plasma level (150 ng/mL) restores ADP-induced PRP aggregation to the level in SCUBE1-positive PRP samples or the level in mutant platelets mixed with SCUBE1-positive PPP

cardiovascular system

cardiovascular system phenotype ( J:223899 )

N • homozygotes show no spontaneous bleeding

mortality/aging

decreased susceptibility to induced morbidity/mortality ( J:223899 )

• following collagen/epinephrine-induced lethal pulmonary thromboembolism, ~60% of homozygotes are still alive at 30 min whereas all wild-type mice die within 8 min after injection