Mouse Genome Informatics
cx
    Rab27aash/Rab27aash
Rab27btm1.2Seab/Rab27btm1.2Seab

involves: 129X1/SvJ * C3H/HeSn * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 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
OMIM IDRef(s)
Storage Pool Platelet Disease 185050 J:120307