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Phenotypes Associated with This Genotype
Genotype
MGI:2659040
Allelic
Composition
Capn1tm1Ahc/Capn1tm1Ahc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Capn1tm1Ahc mutation (1 available); any Capn1 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• homozygotes displayed normal bleeding times
• at 8-12 weeks of age, homozygotes had normal platelet numbers in peripheral blood
• early events of platelet activation (e.g. shape change and granule release) and the initial rate of platelet aggregation appeared normal
• no differences were detected in the cleavage pattern and kinetics of calpain substrates
• platelets showed impaired tyrosine phosphorylation of several proteins upon activation with either calcium ionophore or thrombin, including the beta3 subunit of alphaIIb-beta3 integrin (~70% reduction)
• platelet aggregation was decreased by 50-60% in response to thrombin (10 nM), ADP (20 uM), collagen (20 ug/ml), and calcium ionophore A23187 (1.0 uM)
• subtle differences were detected in the ATP secretion from dense granules upon thrombin and collagen activation; no differences were detected in the ADP- and calcium ionophore A23187-treated platelets

homeostasis/metabolism
• platelets were defective in retracting clots, especially when clot formation was induced with 1.0 nM thrombin
• platelets showed impaired tyrosine phosphorylation of several proteins upon activation with either calcium ionophore or thrombin, including the beta3 subunit of alphaIIb-beta3 integrin (~70% reduction)
• platelet aggregation was decreased by 50-60% in response to thrombin (10 nM), ADP (20 uM), collagen (20 ug/ml), and calcium ionophore A23187 (1.0 uM)
• subtle differences were detected in the ATP secretion from dense granules upon thrombin and collagen activation; no differences were detected in the ADP- and calcium ionophore A23187-treated platelets


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory