Phenotypes Associated with This Genotype

Genotype
MGI:3711074

• Allelic Composition: Rab27a^ash/Rab27a^ash; Rab27b^tm1.2Seab/Rab27b^tm1.2Seab
• Genetic Background: involves: 129X1/SvJ * C3H/HeSn * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

decreased platelet serotonin level ( J:120307 )

• diminished platelet serotonin content

abnormal blood coagulation ( J:120307 )

• significant bleeding defect in platelet function in vivo

• platelet number or size or gross morphology and alpha granule function were normal

decreased platelet aggregation ( J:120307 )

• impaired aggregation with collagen and U46619

abnormal platelet dense granule physiology ( J:120307 )

• reduced secretion of dense granules

hematopoietic system

decreased platelet dense granule number ( J:120307 )

• 50% reduction in the number of dense granules per platelet

decreased platelet serotonin level ( J:120307 )

• diminished platelet serotonin content

decreased platelet aggregation ( J:120307 )

• impaired aggregation with collagen and U46619

abnormal platelet dense granule physiology ( J:120307 )

• reduced secretion of dense granules

respiratory system

abnormal club cell morphology ( J:171174 )

• reduced numbers and patchy distribution

• increased number and size of mature lamellar bodies

abnormal bronchus epithelium morphology ( J:171174 )

• thinning of bronchial epithelium

• disorganization and shortening of bronchioloar cilia

abnormal pulmonary alveolar system morphology ( J:171174 )

• 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	J:120307