All Phenotypes Rab27a<ash> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Rab27a^ash
ashen
MGI:1856656

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rab27a^ash/Rab27a^ash	B6.C3Sn-Rab27a^ash	MGI:5476655
hm2	Rab27a^ash/Rab27a^ash	C3H/HeSn-Rab27a^ash/J	MGI:5505710
hm3	Rab27a^ash/Rab27a^ash	C3H/HeSn-Rab27a^ash/JRos	MGI:3803760
hm4	Rab27a^ash/Rab27a^ash	involves: C3H/HeDiSn	MGI:3640189
cx5	Rab27a^ash/Rab27a^ash Rab27b^tm1Tiz/Rab27b^tm1Tiz	involves: 129P2/OlaHsd * C3H/He * C3H/HeSn	MGI:3834158
cx6	Rab27a^ash/Rab27a^ash Rab27b^tm1.2Seab/Rab27b^tm1.2Seab	involves: 129X1/SvJ * C3H/HeSn * C57BL/6J	MGI:3711074
cx7	Mreg^dsu/Mreg^dsu Rab27a^ash/Rab27a^ash	involves: C3H/HeSn	MGI:3768125
cx8	a/a Rab27a^ash/Rab27a^ash	involves: C3H/HeSnJ * C57BL/6J	MGI:5505784

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab27a^ash mutation (4 available); any Rab27a mutation (147 available)

♀	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

Allelic Composition	Rab27a^ash/Rab27a^ash
Genetic Background	C3H/HeSn-Rab27a^ash/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab27a^ash mutation (4 available); any Rab27a mutation (147 available)

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

hematopoietic system

abnormal platelet dense granule morphology ( J:77395 )

• Background Sensitivity: the contents of the dense granules in platelets are abnormal as indicated by a lack of flashing upon prolonged exposure to UV light that is seen in controls, indicating that granules are relatively empty, unlike on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J where dense granules look normal

decreased platelet ATP level ( J:77395 )

• Background Sensitivity: platelet-dense granule adenine nucleotides (ATP and ADP) are reduced, with a greater loss of ADP (majority in dense granules) than ATP (majority in the cytoplasm) unlike on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J in which ATP and ADP levels are similar to wild-type mice

decreased platelet ADP level ( J:77395 )

• Background Sensitivity: platelet-dense granule adenine nucleotides (ATP and ADP) are reduced, with a greater loss of ADP (majority in dense granules) than ATP (majority in the cytoplasm) unlike on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J where ATP and ADP levels are similar to wild-type mice

decreased platelet dense granule number ( J:77395 )

• the number of dense granules per platelet is slightly depressed (20%) compared to wild-type control platelets

decreased platelet serotonin level ( J:77395 )

• Background Sensitivity: platelet-dense granule serotonin levels are depressed in platelets compared to wild-type, with levels much lower than on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J

decreased platelet aggregation ( J:77395 )

• at low collagen levels, platelets show impaired (about 20% of normal) aggregation rates and no release of granule ATP

• however at high collagen levels, platelet aggregation occurs normally

abnormal platelet dense granule physiology ( J:77395 )

• at high collagen levels, mice do not show abnormalities in rates of platelet aggregation, however no release of granule ATP occurs as in wild-type platelets

• at low collagen levels, no release of granule ATP occurs

• however, lysosomal secretory rate in platelets is normal

homeostasis/metabolism

decreased platelet ATP level ( J:77395 )

decreased platelet serotonin level ( J:77395 )

decreased platelet aggregation ( J:77395 )

• at low collagen levels, platelets show impaired (about 20% of normal) aggregation rates and no release of granule ATP

• however at high collagen levels, platelet aggregation occurs normally

abnormal platelet dense granule physiology ( J:77395 )

• at high collagen levels, mice do not show abnormalities in rates of platelet aggregation, however no release of granule ATP occurs as in wild-type platelets

• at low collagen levels, no release of granule ATP occurs

• however, lysosomal secretory rate in platelets is normal

increased bleeding time ( J:77395 )

• Background Sensitivity: increase in bleeding time to more than 15 min which is much longer than on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J or in wild-type controls

cellular

decreased platelet ATP level ( J:77395 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:77395

Allelic Composition	Rab27a^ash/Rab27a^ash
Genetic Background	C3H/HeSn-Rab27a^ash/JRos

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab27a^ash mutation (4 available); any Rab27a mutation (147 available)

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

hematopoietic system

decreased platelet serotonin level ( J:137593 )

homeostasis/metabolism

decreased platelet serotonin level ( J:137593 )

Allelic Composition	Rab27a^ash/Rab27a^ash
Genetic Background	involves: C3H/HeDiSn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab27a^ash mutation (4 available); any Rab27a mutation (147 available)

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

pigmentation

abnormal Harderian gland pigmentation ( J:4458 )

• melanocytes have fine dendrites and granules are concentrated around the nucleus;

• melanocytes of normal siblings are long and granules widely distributed

abnormal coat/hair pigmentation ( J:4458 )

diluted coat color ( J:4458 )

• mutants on a nonagouti background are similar to homozygous Myo5a and Mlph mutants

• mutants with an agouti background, and therefore greater dilution of yellow pigment, have a grayer adult coat than mice with a nonagouti background

abnormal skin pigmentation ( J:4458 )

• by 3-4 days of age mutant mice have lighter skin pigmentation than normal siblings

abnormal melanocyte morphology ( J:4458 )

abnormal melanosome transport ( J:134370 )

hematopoietic system

abnormal NK cell degranulation ( J:111253 )

• reduced to approximately one tenth normal

decreased platelet dense granule number ( J:63231 )

• 1.3 dense granules per platelet versus 8.4 in C3H controls

decreased platelet serotonin level ( J:63231 )

• less than 10% of normal

impaired natural killer cell mediated cytotoxicity ( J:111253 )

decreased cytotoxic T cell cytolysis ( J:67600 , J:111253 )

• reduced to approximately one tenth normal (J:111253)

homeostasis/metabolism

decreased platelet serotonin level ( J:63231 )

• less than 10% of normal

increased bleeding time ( J:63231 )

• bleed time is greater than 15 minutes, versus the 1.7 minutes of C3H controls

vision/eye

vision/eye phenotype ( J:63231 )

N	• normal retinas

immune system

immune system phenotype ( J:111253 )

• numbers of thymocytes and splenocytes are normal, splenic T cells have a normal CD4/CD8 distribution, splenic T cells proliferate normally in response to CD3/antigen stimulation, the Fas-Fas ligand pathway is intact, cytotoxic T cells can polarize their secretory granules, CTLA4 induction and interferon gamma secretion are normal, and there is normal biogenesis of effector granules in CTLs such that there is a normal level of granzyme A, B, and perforin per CTL

abnormal NK cell degranulation ( J:111253 )

• reduced to approximately one tenth normal

impaired natural killer cell mediated cytotoxicity ( J:111253 )

decreased cytotoxic T cell cytolysis ( J:67600 , J:111253 )

• reduced to approximately one tenth normal (J:111253)

cellular

abnormal vesicle-mediated transport ( J:134370 )

• black, end-stage melanosomes accumulate in the cell center of melanocytes due to an inability to capture them in the dendrites, and there is rapid, bidirectional, microtubule-dependent movement of the melanosomes between the cell center and periphery

abnormal NK cell degranulation ( J:111253 )

• reduced to approximately one tenth normal

integument

integument phenotype ( J:63231 )

N	• melanocyte dendritic arbors are normal

abnormal coat/hair pigmentation ( J:4458 )

diluted coat color ( J:4458 )

• mutants on a nonagouti background are similar to homozygous Myo5a and Mlph mutants

• mutants with an agouti background, and therefore greater dilution of yellow pigment, have a grayer adult coat than mice with a nonagouti background

abnormal skin pigmentation ( J:4458 )

• by 3-4 days of age mutant mice have lighter skin pigmentation than normal siblings

endocrine/exocrine glands

abnormal Harderian gland pigmentation ( J:4458 )

• melanocytes have fine dendrites and granules are concentrated around the nucleus;

• melanocytes of normal siblings are long and granules widely distributed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:63231

Allelic Composition	Rab27a^ash/Rab27a^ash Rab27b^tm1Tiz/Rab27b^tm1Tiz
Genetic Background	involves: 129P2/OlaHsd * C3H/He * C3H/HeSn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab27a^ash mutation (4 available); any Rab27a mutation (147 available)
Rab27b^tm1Tiz mutation (1 available); any Rab27b mutation (25 available)

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

reproductive system

abnormal reproductive system physiology ( J:145238 )

• mice exhibit minor defects in reproduction

endocrine/exocrine glands

abnormal corticotroph morphology ( J:145238 )

• ACTH-containing granules are not polarized to the plasma membrane as in wild-type cells

• however, evoked ACTH secretion is normal

nervous system

abnormal corticotroph morphology ( J:145238 )

• ACTH-containing granules are not polarized to the plasma membrane as in wild-type cells

• however, evoked ACTH secretion is normal

pigmentation

diluted coat color ( J:145238 )

integument

diluted coat color ( J:145238 )

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rab27a^ash mutation (4 available); any Rab27a mutation (147 available)
Rab27b^tm1.2Seab mutation (4 available); any Rab27b mutation (25 available)

♀	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

Allelic Composition	Mreg^dsu/Mreg^dsu Rab27a^ash/Rab27a^ash
Genetic Background	involves: C3H/HeSn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mreg^dsu mutation (1 available); any Mreg mutation (103 available)
Rab27a^ash mutation (4 available); any Rab27a mutation (147 available)

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

pigmentation

diluted coat color ( J:9309 )

• diluted coat color caused by the Rab27a^ash allele is partially suppressed

integument

diluted coat color ( J:9309 )

• diluted coat color caused by the Rab27a^ash allele is partially suppressed

Allelic Composition	a/a Rab27a^ash/Rab27a^ash
Genetic Background	involves: C3H/HeSnJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
a mutation (229 available); any a mutation (463 available)
Rab27a^ash mutation (4 available); any Rab27a mutation (147 available)

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

hematopoietic system

hematopoietic system phenotype ( J:77395 )

• Background Sensitivity: platelet-dense granules and platelet coagulation are normal or near normal unlike on the C3H/HeSnJ background

• Background Sensitivity: concentrations of adenine nucleotides, ADP and ATP, of platelets are only nominally lower than controls and are not significantly different from controls compared to on the C3H/HeSnJ background where levels are depressed

decreased platelet serotonin level ( J:77395 )

• Background Sensitivity: platelet-dense granule serotonin levels are somewhat depressed in platelets compared to wild-type, but levels are much greater than on the C3H/HeSnJ background

homeostasis/metabolism

decreased platelet serotonin level ( J:77395 )

• Background Sensitivity: platelet-dense granule serotonin levels are somewhat depressed in platelets compared to wild-type, but levels are much greater than on the C3H/HeSnJ background

increased bleeding time ( J:77395 )

• Background Sensitivity: modest increase in bleeding time to 6.9 minutes from the normal 2.7 minutes, but shorter than on the C3H/HeSnJ background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Griscelli syndrome type 2		DOID:0060833	OMIM:607624	J:77395

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