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Phenotypes Associated with This Genotype
Genotype
MGI:3711073
Allelic
Composition
Rab27btm1.2Seab/Rab27btm1.2Seab
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab27btm1.2Seab mutation (2 available); any Rab27b mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• diminished platelet serotonin content
• significant bleeding defect in platelet function in vivo
• platelet number or size or gross morphology and alpha granule function were normal
• impaired aggregation with collage and U46619
• reduced secretion of dense granules

hematopoietic system
• 50% reduction in the number of dense granules per platelet
• diminished platelet serotonin content
• impaired aggregation with collage and U46619
• reduced secretion of dense granules

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
platelet storage pool deficiency DOID:2223 OMIM:185050
J:120307


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory