Strain Name:

C3H/HeSn-Rab27aash/J

Stock Number:

000120

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Cryopreserved - Ready for recovery

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Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names C3H/HeSn-Rab27aash    (Changed: 15-DEC-04 )
Type Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse

Description
Ashen mice have a lightened coat color that is gray on a non-agouti background similar to that of dilute (Myo5ad) or leaden (ln) mutants. Lane and Womack reported that on an agouti background the yellow pigment is more dilute in ashen mice resulting in a grayer agouti than that found in dilute or leaden mice, but Wu et al. subsequently reported that dilute and ashen mice have identical degrees of coat color dilution. This pigment dilution results from defective trafficking of melanosomes that are normally found throughout the dendrites of melanocytes. Similar to that seen in leaden mutants, ashen melanosomes are clumped around the nucleus and sparse in the dendrites where normally they are released. Melanosome trafficking from the melanocyte cell body to the ends of the dendrites results from a microtubule-based bidirectional transport. MYO5A is essential for retaining the melanosomes in the ends of the dendrites and preventing their retrograde transport back toward the cell body. In ashen mice MYO5A fails to colocalize with melanosomes indicating that RAB27A is required in some way to facilitate this association. (Lane and Womack, 1979; Wu et al., 1998 and 2001.)

Ashen mice have increased bleeding times and their platelets have fewer platelet dense granules and less serotonin than normal. This has not been reported for leaden or dilute mice. Diminished target cell lysis is found using ashen CTLs and NK cells. This is due to diminished granule exocytosis although Fas-Fas ligand mediated CTL cytotoxicity appears to be normal. Polarization of these ashen lytic granules is normal, but they fail to dock at the target membrane. Mice with the dilute mutation have normal CTL activity. (Wilson et al., 2001; Haddad et al., 2001; Stinchcombe et al., 2001.)

Griscelli syndrome in humans is characterized by pigmentary dilution of the skin and hair due to defective melanosome release from melanocytes. This syndrome has been associated with mutations in either RAB27A or MYO5A. In cases with mutations in RAB27A the disease does not have a neurological component, but does include haemophagocytic syndrome, a severe activation of T cells and macrophages. In cases with mutations in MYO5A the disease includes severe neurological impairment but no immunological defects. This variation in disease phenotype is paralleled in mice with mutations in these genes. Thus, certain mutations in Myo5a are models for Griscelli syndrome with neurologic impairment and the ashen mutation (Rab27aash) is a model for Griscelli syndrome with hemophagocytic syndrome. (Manasche et al., 2000; Pastural et al., 2000.)

Development
The ashen (Rab27aash) mutation arose spontaneously in strain C3H/HeSn at F85 in 1975 at the Jackson Laboratory. The mutation was maintained on the C3H/HeSn background by forced heterozygosis (mating a heterozygote x a homozygote). It was cryopreserved in 1980 by mating heterozygous females with homozygous males to generate embryos. It was removed from the shelf in 1995.

Control Information

  Control
   Heterozygote from the colony
   000661 C3H/HeSnJ
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Griscelli Syndrome, Type 2; GS2
- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).
Hermansky-Pudlak Syndrome 1; HPS1
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.
Storage Pool Platelet Disease
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Rab27aash/Rab27aash

        C3H/HeDiSn
  • pigmentation phenotype
  • abnormal Harderian gland pigmentation
    • melanocytes have fine dendrites and granules are concentrated around the nucleus;   (MGI Ref ID J:4458)
    • melanocytes of normal siblings are long and granules widely distributed   (MGI Ref ID J:4458)
  • abnormal coat/hair pigmentation   (MGI Ref ID J:4458)
    • diluted coat color
      • mutants on a nonagouti background are similar to homozygous Myo5a and Mlph mutants   (MGI Ref ID J:4458)
      • mutants with an agouti background, and therefore greater dilution of yellow pigment, have a grayer adult coat than mice with a nonagouti background   (MGI Ref ID J:4458)
  • abnormal melanocyte morphology   (MGI Ref ID J:4458)
  • abnormal melanosome transport   (MGI Ref ID J:134370)
  • abnormal skin pigmentation
    • by 3-4 days of age mutant mice have lighter skin pigmentation than normal siblings   (MGI Ref ID J:4458)
  • hematopoietic system phenotype
  • abnormal NK cell degranulation
    • reduced to approximately one tenth normal   (MGI Ref ID J:111253)
  • abnormal platelet dense granule number
    • 1.3 dense granules per platelet versus 8.4 in C3H controls   (MGI Ref ID J:63231)
  • decreased cytotoxic T cell cytolysis   (MGI Ref ID J:67600)
    • reduced to approximately one tenth normal   (MGI Ref ID J:111253)
  • decreased platelet serotonin level
    • less than 10% of normal   (MGI Ref ID J:63231)
  • impaired natural killer cell mediated cytotoxicity   (MGI Ref ID J:111253)
  • homeostasis/metabolism phenotype
  • decreased platelet serotonin level
    • less than 10% of normal   (MGI Ref ID J:63231)
  • increased bleeding time
    • bleed time is greater than 15 minutes, versus the 1.7 minutes of C3H controls   (MGI Ref ID J:63231)
  • vision/eye phenotype
  • *normal* vision/eye phenotype
    • normal retinas   (MGI Ref ID J:63231)
  • immune system phenotype
  • *normal* immune system phenotype
    • 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   (MGI Ref ID J:111253)
    • abnormal NK cell degranulation
      • reduced to approximately one tenth normal   (MGI Ref ID J:111253)
    • decreased cytotoxic T cell cytolysis   (MGI Ref ID J:67600)
      • reduced to approximately one tenth normal   (MGI Ref ID J:111253)
    • impaired natural killer cell mediated cytotoxicity   (MGI Ref ID J:111253)
  • cellular phenotype
  • abnormal vesicle-mediated transport
    • 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   (MGI Ref ID J:134370)
  • integument phenotype
  • *normal* integument phenotype
    • melanocyte dendritic arbors are normal   (MGI Ref ID J:63231)
    • abnormal coat/hair pigmentation   (MGI Ref ID J:4458)
      • diluted coat color
        • mutants on a nonagouti background are similar to homozygous Myo5a and Mlph mutants   (MGI Ref ID J:4458)
        • mutants with an agouti background, and therefore greater dilution of yellow pigment, have a grayer adult coat than mice with a nonagouti background   (MGI Ref ID J:4458)
    • abnormal skin pigmentation
      • by 3-4 days of age mutant mice have lighter skin pigmentation than normal siblings   (MGI Ref ID J:4458)
  • endocrine/exocrine gland phenotype
  • abnormal Harderian gland pigmentation
    • melanocytes have fine dendrites and granules are concentrated around the nucleus;   (MGI Ref ID J:4458)
    • melanocytes of normal siblings are long and granules widely distributed   (MGI Ref ID J:4458)

Rab27aash/Rab27aash

        C3H/HeSn-Rab27aash/JRos
  • hematopoietic system phenotype
  • decreased platelet serotonin level   (MGI Ref ID J:137593)
  • homeostasis/metabolism phenotype
  • decreased platelet serotonin level   (MGI Ref ID J:137593)

Rab27aash/Rab27aash

        C3H/HeSn-Rab27aash/J
  • hematopoietic system phenotype
  • abnormal platelet dense granule morphology
    • 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   (MGI Ref ID J:77395)
    • abnormal platelet dense granule number
      • the number of platelet-dense granules (number of dense granules per platelet is slightly depressed (20%) compared to wild-type control platelets   (MGI Ref ID J:77395)
    • decreased platelet ADP level
      • 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   (MGI Ref ID J:77395)
    • decreased platelet ATP level
      • 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   (MGI Ref ID J:77395)
    • decreased platelet serotonin level
      • 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   (MGI Ref ID J:77395)
  • abnormal platelet dense granule physiology
    • 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   (MGI Ref ID J:77395)
    • at low collagen levels, no release of granule ATP occurs   (MGI Ref ID J:77395)
    • however, lysosomal secretory rate in platelets is normal   (MGI Ref ID J:77395)
  • decreased platelet aggregation
    • at low collagen levels, platelets show impaired (about 20% of normal) aggregation rates and no release of granule ATP   (MGI Ref ID J:77395)
    • however at high collagen levels, platelet aggregation occurs normally   (MGI Ref ID J:77395)
  • homeostasis/metabolism phenotype
  • abnormal platelet dense granule physiology
    • 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   (MGI Ref ID J:77395)
    • at low collagen levels, no release of granule ATP occurs   (MGI Ref ID J:77395)
    • however, lysosomal secretory rate in platelets is normal   (MGI Ref ID J:77395)
  • decreased platelet aggregation
    • at low collagen levels, platelets show impaired (about 20% of normal) aggregation rates and no release of granule ATP   (MGI Ref ID J:77395)
    • however at high collagen levels, platelet aggregation occurs normally   (MGI Ref ID J:77395)
  • decreased platelet serotonin level
    • 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   (MGI Ref ID J:77395)
  • increased bleeding time
    • 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   (MGI Ref ID J:77395)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Rab27aash/Rab27aash

        B6.C3Sn-Rab27aash
  • immune system phenotype
  • abnormal cytotoxic T cell physiology
    • impaired CD8+ T cell degranulation   (MGI Ref ID J:193137)
    • increased priming in LMCV-infected mice of transferred P14 CD8+ T cells resulting in higher proliferative capacity   (MGI Ref ID J:193137)
    • decreased cytotoxic T cell cytolysis
      • reduced killing of anti-CD3-loaded P815 target cells   (MGI Ref ID J:193137)
  • decreased NK cell degranulation
    • in the presence of recombinant IL15 alone or in combination with IL2   (MGI Ref ID J:193137)
  • decreased leukocyte cell number
    • in LMCV-infected mice   (MGI Ref ID J:193137)
    • decreased neutrophil cell number
      • lack of neutrophilia in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating interferon-gamma level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating interleukin-1 beta level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating interleukin-6 level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating tumor necrosis factor level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased susceptibility to viral infection
    • LMCV-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   (MGI Ref ID J:193137)
    • LMCV-infected mice develop intermediate hemophagocytic lymphohistiocytosis that is not as severe as in Prf1tm1Sdz homozygotes but more severe than in Stx11tm1.2Ics homozygotes despite similar viral loads   (MGI Ref ID J:193137)
  • behavior/neurological phenotype
  • hunched posture
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • lethargy
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • growth/size/body phenotype
  • weight loss
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • homeostasis/metabolism phenotype
  • decreased body temperature
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating aspartate transaminase level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating interferon-gamma level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating interleukin-1 beta level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating interleukin-6 level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating lactate dehydrogenase level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • increased circulating tumor necrosis factor level
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • hematopoietic system phenotype
  • abnormal cytotoxic T cell physiology
    • impaired CD8+ T cell degranulation   (MGI Ref ID J:193137)
    • increased priming in LMCV-infected mice of transferred P14 CD8+ T cells resulting in higher proliferative capacity   (MGI Ref ID J:193137)
    • decreased cytotoxic T cell cytolysis
      • reduced killing of anti-CD3-loaded P815 target cells   (MGI Ref ID J:193137)
  • decreased NK cell degranulation
    • in the presence of recombinant IL15 alone or in combination with IL2   (MGI Ref ID J:193137)
  • decreased erythrocyte cell number
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • decreased leukocyte cell number
    • in LMCV-infected mice   (MGI Ref ID J:193137)
    • decreased neutrophil cell number
      • lack of neutrophilia in LMCV-infected mice   (MGI Ref ID J:193137)
  • decreased platelet cell number
    • in LMCV-infected mice   (MGI Ref ID J:193137)
  • pancytopenia
    • in LMCV-infected mice   (MGI Ref ID J:193137)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.

a/a Rab27aash/Rab27aash

        involves: C3H/HeSnJ * C57BL/6J
  • hematopoietic system phenotype
  • *normal* hematopoietic system phenotype
    • platelet-dense granules and platelet coagulation are normal or near normal unlike on the C3H/HeSnJ background   (MGI Ref ID J:77395)
    • 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   (MGI Ref ID J:77395)
    • decreased platelet serotonin level
      • 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   (MGI Ref ID J:77395)
  • homeostasis/metabolism phenotype
  • decreased platelet serotonin level
    • 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   (MGI Ref ID J:77395)
  • increased bleeding time
    • modest increase in bleeding time to 6.9 minutes from the normal 2.7 minutes, but shorter than on the C3H/HeSnJ background   (MGI Ref ID J:77395)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Rab27aash related

Cell Biology Research
Vesicular Trafficking

Dermatology Research
Color and White Spotting Defects

Hematological Research
Clotting Defects
Platelet Defects

Immunology, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Rab27aash
Allele Name ashen
Allele Type Spontaneous
Common Name(s) ash;
Strain of OriginC3H/HeSn
Gene Symbol and Name Rab27a, RAB27A, member RAS oncogene family
Chromosome 9
Gene Common Name(s) 2210402C08Rik; 2410003M20Rik; 4933437C11Rik; GS2; HsT18676; RAB27; RAM; RIKEN cDNA 2210402C08 gene; RIKEN cDNA 2410003M20 gene; RIKEN cDNA 4933437C11 gene; ash; ashen;
General Note Phenotypic Similarity to Human Syndrome: Hemophagocytic Lymphohistiocytosis (J:193137, J:141404)
Molecular Note Sequence analysis of the coding region revealed an A to T transversion in the third base pair of the splice donor site downstream of exon 4. This results in activation of two cryptic downstream splice donor sites and the addition of an intron into the Rab27a message. [MGI Ref ID J:63231]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Hume AN; Collinson LM; Rapak A; Gomes AQ; Hopkins CR; Seabra MC. 2001. Rab27a regulates the peripheral distribution of melanosomes in melanocytes. J Cell Biol 152(4):795-808. [PubMed: 11266470]  [MGI Ref ID J:67601]

Stinchcombe JC; Barral DC; Mules EH; Booth S; Hume AN; Machesky LM; Seabra MC; Griffiths GM. 2001. Rab27a is required for regulated secretion in cytotoxic t lymphocytes. J Cell Biol 152(4):825-34. [PubMed: 11266472]  [MGI Ref ID J:67600]

Wilson SM; Yip R; Swing DA; O'Sullivan TN; Zhang Y; Novak EK; Swank RT; Russell LB; Copeland NG; Jenkins NA. 2000. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci U S A 97(14):7933-8. [PubMed: 10859366]  [MGI Ref ID J:63231]

Rab27aash related

Anderson KE; Chessa TA; Davidson K; Henderson RB; Walker S; Tolmachova T; Grys K; Rausch O; Seabra MC; Tybulewicz VL; Stephens LR; Hawkins PT. 2010. PtdIns3P and Rac direct the assembly of the NADPH oxidase on a novel, pre-phagosomal compartment during FcR-mediated phagocytosis in primary mouse neutrophils. Blood 116(23):4978-89. [PubMed: 20813901]  [MGI Ref ID J:167418]

Barral DC; Ramalho JS; Anders R; Hume AN; Knapton HJ; Tolmachova T; Collinson LM; Goulding D; Authi KS; Seabra MC. 2002. Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome. J Clin Invest 110(2):247-57. [PubMed: 12122117]  [MGI Ref ID J:79756]

Blasius AL; Arnold CN; Georgel P; Rutschmann S; Xia Y; Lin P; Ross C; Li X; Smart NG; Beutler B. 2010. Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. Proc Natl Acad Sci U S A 107(46):19973-8. [PubMed: 21045126]  [MGI Ref ID J:166600]

Bolasco G; Tracey-White DC; Tolmachova T; Thorley AJ; Tetley TD; Seabra MC; Hume AN. 2011. Loss of Rab27 function results in abnormal lung epithelium structure in mice. Am J Physiol Cell Physiol 300(3):C466-76. [PubMed: 21160031]  [MGI Ref ID J:171174]

Chan WT; Sherer NM; Uchil PD; Novak EK; Swank RT; Mothes W. 2008. Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis. PLoS ONE 3(7):e2713. [PubMed: 18629000]  [MGI Ref ID J:139279]

Chen G; Zhang Z; Wei Z; Cheng Q; Li X; Li W; Duan S; Gu X. 2012. Lysosomal exocytosis in Schwann cells contributes to axon remyelination. Glia 60(2):295-305. [PubMed: 22042600]  [MGI Ref ID J:179724]

Chiang L; Ngo J; Schechter JE; Karvar S; Tolmachova T; Seabra MC; Hume AN; Hamm-Alvarez SF. 2011. Rab27b regulates exocytosis of secretory vesicles in acinar epithelial cells from the lacrimal gland. Am J Physiol Cell Physiol 301(2):C507-21. [PubMed: 21525430]  [MGI Ref ID J:175669]

Chintala S; Tan J; Gautam R; Rusiniak ME; Guo X; Li W; Gahl WA; Huizing M; Spritz RA; Hutton S; Novak EK; Swank RT. 2007. The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood 109(4):1533-40. [PubMed: 17062724]  [MGI Ref ID J:137593]

Futter CE; Ramalho JS; Jaissle GB; Seeliger MW; Seabra MC. 2004. The role of Rab27a in the regulation of melanosome distribution within retinal pigment epithelial cells. Mol Biol Cell 15(5):2264-75. [PubMed: 14978221]  [MGI Ref ID J:91408]

Gomi H; Mori K; Itohara S; Izumi T. 2007. Rab27b is expressed in a wide range of exocytic cells and involved in the delivery of secretory granules near the plasma membrane. Mol Biol Cell 18(11):4377-86. [PubMed: 17761531]  [MGI Ref ID J:145238]

Haddad EK; Wu X; Hammer JA 3rd; Henkart PA. 2001. Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice. J Cell Biol 152(4):835-42. [PubMed: 11266473]  [MGI Ref ID J:111253]

Hou Y; Chen X; Tolmachova T; Ernst SA; Williams JA. 2013. EPI64B acts as a GTPase-activating protein for Rab27B in pancreatic acinar cells. J Biol Chem 288(27):19548-57. [PubMed: 23671284]  [MGI Ref ID J:202776]

Hume AN; Collinson LM; Hopkins CR; Strom M; Barral DC; Bossi G; Griffiths GM; Seabra MC. 2002. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic 3(3):193-202. [PubMed: 11886590]  [MGI Ref ID J:105323]

Jancic C; Savina A; Wasmeier C; Tolmachova T; El-Benna J; Dang PM; Pascolo S; Gougerot-Pocidalo MA; Raposo G; Seabra MC; Amigorena S. 2007. Rab27a regulates phagosomal pH and NADPH oxidase recruitment to dendritic cell phagosomes. Nat Cell Biol 9(4):367-78. [PubMed: 17351642]  [MGI Ref ID J:126381]

Jessen B; Bode SF; Ammann S; Chakravorty S; Davies G; Diestelhorst J; Frei-Jones M; Gahl WA; Gochuico BR; Griese M; Griffiths G; Janka G; Klein C; Kogl T; Kurnik K; Lehmberg K; Maul-Pavicic A; Mumford AD; Pace D; Parvaneh N; Rezaei N; de Saint Basile G; Schmitt-Graeff A; Schwarz K; Karasu GT; Zieger B; Zur Stadt U; Aichele P; Ehl S. 2013. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood 121(15):2943-51. [PubMed: 23403622]  [MGI Ref ID J:196461]

Johnson JL; Hong H; Monfregola J; Catz SD. 2011. Increased survival and reduced neutrophil infiltration of the liver in rab27a- but not munc13-4-deficient mice in lipopolysaccharide-induced systemic inflammation. Infect Immun 79(9):3607-18. [PubMed: 21746860]  [MGI Ref ID J:175690]

Kasai K; Ohara-Imaizumi M; Takahashi N; Mizutani S; Zhao S; Kikuta T; Kasai H; Nagamatsu S; Gomi H; Izumi T. 2005. Rab27a mediates the tight docking of insulin granules onto the plasma membrane during glucose stimulation. J Clin Invest 115(2):388-96. [PubMed: 15690086]  [MGI Ref ID J:95915]

Kim JD; Willetts L; Ochkur S; Srivastava N; Hamburg R; Shayeganpour A; Seabra MC; Lee JJ; Moqbel R; Lacy P. 2013. An essential role for Rab27a GTPase in eosinophil exocytosis. J Leukoc Biol 94(6):1265-74. [PubMed: 23986549]  [MGI Ref ID J:209545]

Koguchi Y; Gardell JL; Thauland TJ; Parker DC. 2011. Cyclosporine-resistant, Rab27a-independent mobilization of intracellular preformed CD40 ligand mediates antigen-specific T cell help in vitro. J Immunol 187(2):626-34. [PubMed: 21677130]  [MGI Ref ID J:178036]

Lane PW; Womack JE. 1979. Ashen, a new color mutation on chromosome 9 of the mouse. J Hered 70:133-135.  [MGI Ref ID J:4458]

Lane PW; Womack JE. 1977. New mutations and enzyme variants Mouse News Lett 57:18.  [MGI Ref ID J:24758]

Langdon WY; Theodore TS; Buckler CE; Stimpfling JH; Martin MA; Morse HC 3rd. 1984. Relationship between a retroviral germ line reintegration and a new mutation at the ashen locus in B10.F mice. Retroviral integration and an ashen mutation. Virology 133(1):183-90. [PubMed: 6322428]  [MGI Ref ID J:7366]

Merrins MJ; Stuenkel EL. 2008. Kinetics of Rab27a-dependent actions on vesicle docking and priming in pancreatic beta-cells. J Physiol 586(Pt 22):5367-81. [PubMed: 18801842]  [MGI Ref ID J:176566]

Monfregola J; Johnson JL; Meijler MM; Napolitano G; Catz SD. 2012. MUNC13-4 protein regulates the oxidative response and is essential for phagosomal maturation and bacterial killing in neutrophils. J Biol Chem 287(53):44603-18. [PubMed: 23115246]  [MGI Ref ID J:193760]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Moore KJ; Swing DA; Rinchik EM; Mucenski ML; Buchberg AM; Copeland NG; Jenkins NA. 1988. The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln. Genetics 119(4):933-41. [PubMed: 3410303]  [MGI Ref ID J:9309]

Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. [PubMed: 11256068]  [MGI Ref ID J:88013]

Nguyen T; Wei ML. 2004. Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. J Invest Dermatol 122(2):452-60. [PubMed: 15009730]  [MGI Ref ID J:88797]

Novak EK; Gautam R; Reddington M; Collinson LM; Copeland NG; Jenkins NA; McGarry MP; Swank RT. 2002. The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background. Blood 100(1):128-35. [PubMed: 12070017]  [MGI Ref ID J:77395]

Pachlopnik Schmid J; Ho CH; Diana J; Pivert G; Lehuen A; Geissmann F; Fischer A; de Saint Basile G. 2008. A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). Eur J Immunol 38(11):3219-25. [PubMed: 18991284]  [MGI Ref ID J:141404]

Sepulveda FE; Debeurme F; Menasche G; Kurowska M; Cote M; Pachlopnik Schmid J; Fischer A; de Saint Basile G. 2013. Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11. Blood 121(4):595-603. [PubMed: 23160464]  [MGI Ref ID J:193137]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Singh RK; Liao W; Tracey-White D; Recchi C; Tolmachova T; Rankin SM; Hume AN; Seabra MC. 2012. Rab27a-mediated protease release regulates neutrophil recruitment by allowing uropod detachment. J Cell Sci 125(Pt 7):1652-6. [PubMed: 22375060]  [MGI Ref ID J:197700]

Singh RK; Mizuno K; Wasmeier C; Wavre-Shapton ST; Recchi C; Catz SD; Futter C; Tolmachova T; Hume AN; Seabra MC. 2013. Distinct and opposing roles for Rab27a/Mlph/MyoVa and Rab27b/Munc13-4 in mast cell secretion. FEBS J 280(3):892-903. [PubMed: 23281710]  [MGI Ref ID J:211540]

Stinchcombe JC; Barral DC; Mules EH; Booth S; Hume AN; Machesky LM; Seabra MC; Griffiths GM. 2001. Rab27a is required for regulated secretion in cytotoxic t lymphocytes. J Cell Biol 152(4):825-34. [PubMed: 11266472]  [MGI Ref ID J:67600]

Tiwari S; Italiano JE Jr; Barral DC; Mules EH; Novak EK; Swank RT; Seabra MC; Shivdasani RA. 2003. A role for Rab27b in NF-E2-dependent pathways of platelet formation. Blood 102(12):3970-9. [PubMed: 12907454]  [MGI Ref ID J:86678]

Tolmachova T; Abrink M; Futter CE; Authi KS; Seabra MC. 2007. Rab27b regulates number and secretion of platelet dense granules. Proc Natl Acad Sci U S A 104(14):5872-7. [PubMed: 17384153]  [MGI Ref ID J:120307]

Tolmachova T; Anders R; Stinchcombe J; Bossi G; Griffiths GM; Huxley C; Seabra MC. 2004. A general role for Rab27a in secretory cells. Mol Biol Cell 15(1):332-44. [PubMed: 14617806]  [MGI Ref ID J:95342]

Wavre-Shapton ST; Tolmachova T; Lopes da Silva M; Futter CE; Seabra MC. 2013. Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium. PLoS One 8(2):e57769. [PubMed: 23460904]  [MGI Ref ID J:198276]

Wilson SM; Yip R; Swing DA; O'Sullivan TN; Zhang Y; Novak EK; Swank RT; Russell LB; Copeland NG; Jenkins NA. 2000. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci U S A 97(14):7933-8. [PubMed: 10859366]  [MGI Ref ID J:63231]

Wu X; Rao K; Bowers MB; Copeland NG; Jenkins NA; Hammer JA 3rd. 2001. Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle. J Cell Sci 114(Pt 6):1091-100. [PubMed: 11228153]  [MGI Ref ID J:134370]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2525.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Frozen Products

Price (US dollars $)
Frozen Embryo $1650.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Frozen Products

Price (US dollars $)
Frozen Embryo $2145.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   Heterozygote from the colony
   000661 C3H/HeSnJ
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


See Terms of Use tab for General Terms and Conditions


The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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