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Phenotypes Associated with This Genotype
involves: 129X1/SvJ * C3H/HeSn * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab27aash mutation (4 available); any Rab27a mutation (128 available)
Rab27btm1.2Seab mutation (4 available); any Rab27b mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• diminished platelet serotonin content

• 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 collagen 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 collagen and U46619
• reduced secretion of dense granules

respiratory system
• reduced numbers and patchy distribution
• increased number and size of mature lamellar bodies
• thinning of bronchial epithelium
• disorganization and shortening of bronchioloar cilia
• enlargement of alveolar air spaces which becomes more evident with age
• reduced numbers of alveolar epithelial II cells and reduced numbers of Clare cells
• patchy ditribution of Clara cells

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

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
MGI 6.15
The Jackson Laboratory