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Phenotypes Associated with This Genotype
Genotype
MGI:2677136
Allelic
Composition
Itga2btm1Tlr/Itga2btm1Tlr
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ * BALB/c) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• homozygotes display a thrombasthenic-like syndrome that prevents them from controlling blood loss (J:63961)
• homozygotes display a thrombasthenic-like syndrome that prevents them from controlling blood loss (J:63961)
• unlike platelet-rich plasma (PRP) from wild-type controls which complete the retraction of opaque thrombin-induced clots within a 2-hr period, mutant PRP fails to undergo clot retraction for 15 hours (J:63961)
• unlike platelet-rich plasma (PRP) from wild-type controls which complete the retraction of opaque thrombin-induced clots within a 2-hr period, mutant PRP fails to undergo clot retraction for 15 hours (J:63961)
• mutant platelets have a severely reduced capacity to bind fibrinogen relative to wild-type platelets (J:63961)
• specific and displaceable fibrinogen binding is only 6% +/- 2% of normal (J:63961)
• mutant platelets have a severely reduced capacity to bind fibrinogen relative to wild-type platelets (J:63961)
• specific and displaceable fibrinogen binding is only 6% +/- 2% of normal (J:63961)
• mutant platelets fail to aggregate in the presence of either ADP or collagen, unlike wild-type platelets (J:63961)
• mutant platelets fail to aggregate in the presence of either ADP or collagen, unlike wild-type platelets (J:63961)
• adult homozygotes display a prolonged bleeding time (>15 minutes) relative to wild-type controls (J:63961)
• adult homozygotes display a prolonged bleeding time (>15 minutes) relative to wild-type controls (J:63961)

cardiovascular system
• 12 of 24 adult homozygotes exhibit a severe bleeding diathesis at autopsy (J:63961)
• 12 of 24 adult homozygotes exhibit a severe bleeding diathesis at autopsy (J:63961)
• 2 of 24 adult homozygotes exhibit gastrointestinal hemorrhage (J:63961)
• 2 of 24 adult homozygotes exhibit gastrointestinal hemorrhage (J:63961)
• 5 of 24 adult homozygotes display subcutaneous bleeding (J:63961)
• 2 of 24 show gastrointestinal hemorrhage (J:63961)
• 3 of 24 exhibit urogenital bleeding episodes (J:63961)
• 3 of 24 develop obvious, but non-fatal, intra-abdominal bleeding (J:63961)
• 5 of 24 adult homozygotes display subcutaneous bleeding (J:63961)
• 2 of 24 show gastrointestinal hemorrhage (J:63961)
• 3 of 24 exhibit urogenital bleeding episodes (J:63961)
• 3 of 24 develop obvious, but non-fatal, intra-abdominal bleeding (J:63961)

hematopoietic system
• 3 of 24 homozygotes display slight erythrocytopenia associated with splenomegaly (J:63961)
• however, normal numbers of white blood cells and platelets are observed (J:63961)
• 3 of 24 homozygotes display slight erythrocytopenia associated with splenomegaly (J:63961)
• however, normal numbers of white blood cells and platelets are observed (J:63961)
• mutant platelet alpha-granules do not contain fibrinogen, unlike wild-type organelles (J:63961)
• however, immunogold labeling and ultrastructural analysis of megakaryocytes indicates normal morphology with normal alpha-granule organization relative to wild-type controls (J:63961)
• mutant platelet alpha-granules do not contain fibrinogen, unlike wild-type organelles (J:63961)
• however, immunogold labeling and ultrastructural analysis of megakaryocytes indicates normal morphology with normal alpha-granule organization relative to wild-type controls (J:63961)
• 3 of 24 homozygotes display slight erythrocytopenia associated with splenomegaly (J:63961)
• 3 of 24 homozygotes display slight erythrocytopenia associated with splenomegaly (J:63961)
• unlike platelet-rich plasma (PRP) from wild-type controls which complete the retraction of opaque thrombin-induced clots within a 2-hr period, mutant PRP fails to undergo clot retraction for 15 hours (J:63961)
• unlike platelet-rich plasma (PRP) from wild-type controls which complete the retraction of opaque thrombin-induced clots within a 2-hr period, mutant PRP fails to undergo clot retraction for 15 hours (J:63961)
• mutant platelets have a severely reduced capacity to bind fibrinogen relative to wild-type platelets (J:63961)
• specific and displaceable fibrinogen binding is only 6% +/- 2% of normal (J:63961)
• mutant platelets have a severely reduced capacity to bind fibrinogen relative to wild-type platelets (J:63961)
• specific and displaceable fibrinogen binding is only 6% +/- 2% of normal (J:63961)
• mutant platelets fail to aggregate in the presence of either ADP or collagen, unlike wild-type platelets (J:63961)
• mutant platelets fail to aggregate in the presence of either ADP or collagen, unlike wild-type platelets (J:63961)

digestive/alimentary system
• 2 of 24 adult homozygotes exhibit gastrointestinal hemorrhage (J:63961)
• 2 of 24 adult homozygotes exhibit gastrointestinal hemorrhage (J:63961)

immune system
• 3 of 24 homozygotes display slight erythrocytopenia associated with splenomegaly (J:63961)
• 3 of 24 homozygotes display slight erythrocytopenia associated with splenomegaly (J:63961)

reproductive system
N
• female homozygotes are fertile with no major delivery problems, unlike women with Glanzmann thrombasthenia (J:63961)
• female homozygotes are fertile with no major delivery problems, unlike women with Glanzmann thrombasthenia (J:63961)

Mouse Models of Human Disease
OMIM ID Ref(s)
Bleeding Disorder, Platelet-Type, 16; BDPLT16 187800 J:63961


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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory