mammalian phenotype

• pigmentation phenotype
  • Normal - mice exhibit wild-type iris pigmentation
  (MGI Ref ID J:141035)

cellular phenotype

• abnormal megakaryocyte differentiation
  • megakaryocytes are more plentiful but have abnormal intracellular membranes, increased invasions by white cells and decreased platelet synthesis
  (MGI Ref ID J:12434)

homeostasis/metabolism phenotype

• increased circulating von Willebrand factor level
  • plasma von Willebrand factor (vWF) levels are increased concomitant with the platelet vWF reduction
  (MGI Ref ID J:12434)

• decreased platelet serotonin level
  • serotonin concentration is reduced to less than 50% of control values
  (MGI Ref ID J:12434)

• increased bleeding time
  • prolonged bleeding time
  (MGI Ref ID J:12434)

immune system phenotype

• decreased cytotoxic T cell cytolysis
  • reduced target cell lysis but normal secretion of granule contents hexosaminidase and granzyme A
  (MGI Ref ID J:67600)
  • in the synapse between cytotoxic T cell and target cell the granules are incompletely polarized
  (MGI Ref ID J:67600)

integument phenotype

• diluted coat color
  • looks like Lyst^bg
  (MGI Ref ID J:13419)
  • grayish black pigment dilution
  (MGI Ref ID J:13419)

mortality/aging

• premature death
  • homozygous mice have high mortality
  (MGI Ref ID J:13419)

nervous system phenotype

• decreased platelet serotonin level
  • serotonin concentration is reduced to less than 50% of control values
  (MGI Ref ID J:12434)

pigmentation phenotype

• diluted coat color
  • looks like Lyst^bg
  (MGI Ref ID J:13419)
  • grayish black pigment dilution
  (MGI Ref ID J:13419)

reproductive system phenotype

• reduced fertility
  • homozygous mice do not breed well
  (MGI Ref ID J:13419)

hematopoietic system phenotype

• decreased platelet serotonin level
  • serotonin concentration is reduced to less than 50% of control values
  (MGI Ref ID J:12434)

• decreased cytotoxic T cell cytolysis
  • reduced target cell lysis but normal secretion of granule contents hexosaminidase and granzyme A
  (MGI Ref ID J:67600)
  • in the synapse between cytotoxic T cell and target cell the granules are incompletely polarized
  (MGI Ref ID J:67600)

• decreased platelet dense granule number
  • number of dense granules per platelet is reduced to ~50% of control values, as detected by whole mount electron microscopy
  (MGI Ref ID J:12434)

• increased mean platelet volume
  • 30% increase in mean platelet volume
  (MGI Ref ID J:12434)
  • platelet size difference is maintained from 4 weeks to 6 months of age
  (MGI Ref ID J:12434)

• abnormal megakaryocyte differentiation
  • megakaryocytes are more plentiful but have abnormal intracellular membranes, increased invasions by white cells and decreased platelet synthesis
  (MGI Ref ID J:12434)

• thrombocytopenia
  • platelet counts are ~50% of those in heterozygous controls
  (MGI Ref ID J:12434)

• abnormal platelet alpha-granule morphology
  • platelet alpha granules show significant reductions in fibrinogen, platelet factor 4, and von Willebrand factor (vWF)
  (MGI Ref ID J:12434)

hematopoietic system phenotype

• decreased cytotoxic T cell cytolysis
  • target cell lysis is slightly less than normal, but this diminution is more severe in homozygotes
  (MGI Ref ID J:67600)

immune system phenotype

• decreased cytotoxic T cell cytolysis
  • target cell lysis is slightly less than normal, but this diminution is more severe in homozygotes
  (MGI Ref ID J:67600)