Phenotypes Associated with This Genotype

Genotype
MGI:5476655

• Allelic Composition: Rab27a^ash/Rab27a^ash
• Genetic Background: B6.C3Sn-Rab27a^ash

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

immune system

decreased NK cell degranulation ( J:193137 )

• in the presence of recombinant IL15 alone or in combination with IL2

decreased leukocyte cell number ( J:193137 )

• in LCMV-infected mice

decreased neutrophil cell number ( J:193137 )

• lack of neutrophilia in LCMV-infected mice

abnormal cytotoxic T cell physiology ( J:193137 )

• impaired CD8+ T cell degranulation

• increased priming in LMCV-infected mice of transferred P14 CD8+ T cells resulting in higher proliferative capacity

decreased cytotoxic T cell cytolysis ( J:193137 )

• reduced killing of anti-CD3-loaded P815 target cells

increased circulating interferon-gamma level ( J:193137 )

• in LCMV-infected mice

increased circulating interleukin-1 beta level ( J:193137 )

• in LCMV-infected mice

increased circulating interleukin-6 level ( J:193137 )

• in LCMV-infected mice

increased circulating tumor necrosis factor level ( J:193137 )

• in LCMV-infected mice

increased susceptibility to Riboviria infection ( J:193137 )

• LCMV-infected mice develop clinical features of hemophagocytic lymphohistiocytosis including weight loss, body temperature drop, hunched posture, lethargy, pancytopenia, lack of neutrophilia, increased circulating aspartate transaminase level, increased circulating lactate dehydrogenase level, increased serum levels of IFN-gamma, IL1b, TNF-alpha and IL6, increased viral load and worsening condition compared with wild-type mice

• LCMV-infected mice develop intermediate hemophagocytic lymphohistiocytosis that is not as severe as in Prf1^tm1Sdz homozygotes but more severe than in Stx11^tm1.2Ics homozygotes despite similar viral loads

behavior/neurological

lethargy ( J:193137 )

• in LCMV-infected mice

hunched posture ( J:193137 )

• in LCMV-infected mice

growth/size/body

weight loss ( J:193137 )

• in LCMV-infected mice

homeostasis/metabolism

increased circulating interferon-gamma level ( J:193137 )

• in LCMV-infected mice

increased circulating interleukin-1 beta level ( J:193137 )

• in LCMV-infected mice

increased circulating interleukin-6 level ( J:193137 )

• in LCMV-infected mice

increased circulating tumor necrosis factor level ( J:193137 )

• in LCMV-infected mice

increased circulating aspartate transaminase level ( J:193137 )

• in LCMV-infected mice

increased circulating lactate dehydrogenase level ( J:193137 )

• in LCMV-infected mice

decreased body temperature ( J:193137 )

• in LCMV-infected mice

hematopoietic system

decreased NK cell degranulation ( J:193137 )

• in the presence of recombinant IL15 alone or in combination with IL2

decreased erythrocyte cell number ( J:193137 )

• in LCMV-infected mice

thrombocytopenia ( J:193137 )

• in LCMV-infected mice

decreased leukocyte cell number ( J:193137 )

• in LCMV-infected mice

decreased neutrophil cell number ( J:193137 )

• lack of neutrophilia in LCMV-infected mice

pancytopenia ( J:193137 )

• in LCMV-infected mice

abnormal cytotoxic T cell physiology ( J:193137 )

• impaired CD8+ T cell degranulation

• increased priming in LMCV-infected mice of transferred P14 CD8+ T cells resulting in higher proliferative capacity

decreased cytotoxic T cell cytolysis ( J:193137 )

• reduced killing of anti-CD3-loaded P815 target cells

cellular

decreased NK cell degranulation ( J:193137 )

• in the presence of recombinant IL15 alone or in combination with IL2

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemophagocytic lymphohistiocytosis		DOID:0050120	OMIM:PS267700	J:193137