hematopoietic system phenotype

• increased platelet aggregation
  • mutant platelets exhibit increased sensitivity to ADP, manifested as a significant increase in slope and percent aggregation in ex vivo assays; platelet hyperresponsiveness to ADP is not secondary to thromboxane synthesis, PKC activity, or dense granule release and can be attenuated by the addition of 12-(S)-hydroperoxyeicosatetraenoic acid to platelet-rich plasma
  (MGI Ref ID J:46896)
  • Normal - platelet adhesion to various extracellular matrix proteins, including fibrinogen, collagen and fibronectin, is normal
  (MGI Ref ID J:46896)
  • Normal - thrombin-, collagen-, U46619-, and arachidonic acid-induced aggregation responses are largely unaffected
  (MGI Ref ID J:46896)

integument phenotype

• impaired skin barrier function
  • homozygotes exhibit increased transepidermal water loss, without increased basal mitotic activity of epidermal cells, and normal recovery of the epidermal barrier after acetone disruption
  (MGI Ref ID J:55741)
  • Normal - however, epidermis appears structurally normal, with no detectable differences in number or appearance of lamellar bodies and no changes in the content of major fatty acids
  (MGI Ref ID J:55741)

mammalian phenotype

• immune system phenotype
  • Normal - homozygotes exhibit a normal arachidonic acid-induced ear inflammatory response, as measured by plasma leakage and edema formation
  (MGI Ref ID J:55741)

homeostasis/metabolism phenotype

• impaired skin barrier function
  • Normal - however, epidermis appears structurally normal, with no detectable differences in number or appearance of lamellar bodies and no changes in the content of major fatty acids
  (MGI Ref ID J:55741)
  • homozygotes exhibit increased transepidermal water loss, without increased basal mitotic activity of epidermal cells, and normal recovery of the epidermal barrier after acetone disruption
  (MGI Ref ID J:55741)

• increased platelet aggregation
  • mutant platelets exhibit increased sensitivity to ADP, manifested as a significant increase in slope and percent aggregation in ex vivo assays; platelet hyperresponsiveness to ADP is not secondary to thromboxane synthesis, PKC activity, or dense granule release and can be attenuated by the addition of 12-(S)-hydroperoxyeicosatetraenoic acid to platelet-rich plasma
  (MGI Ref ID J:46896)
  • Normal - platelet adhesion to various extracellular matrix proteins, including fibrinogen, collagen and fibronectin, is normal
  (MGI Ref ID J:46896)
  • Normal - thrombin-, collagen-, U46619-, and arachidonic acid-induced aggregation responses are largely unaffected
  (MGI Ref ID J:46896)

• increased susceptibility to induced thrombosis
  • homozygotes are more sensitive to thrombosis elicited by i.v. ADP injection: 87.5% of mutants (vs only 20% of wild-type) exhibit thrombolytic death at an ADP dose of 0.035 mg/g (body weight)
  (MGI Ref ID J:46896)
  • Normal - however, no differences in mortality are observed with arachidonic acid-induced thrombosis at 30 mg/kg and 100 mg/kg
  (MGI Ref ID J:46896)

• abnormal susceptibility to induced thrombosis
  • in contrast, no differences in mortality with arachidonic acid-induced thrombosis are observed at 30 mg/kg and 100 mg/kg
  (MGI Ref ID J:46896)
  • homozygotes are more sensitive to thrombosis elicited by i.v. ADP injection: 87.5% of mutants (vs only 20% of wild-type) exhibit thrombolytic death at an ADP dose of 0.035 mg/g (body weight)
  (MGI Ref ID J:46896)