IMPC phenotypes (gene matching)
B6.129(C3)-Rab27aash Rab27btm1.2Seab/SeabH
| Status | Available to order |
| EMMA ID | EM:08549 |
| Citation information | RRID:IMSR_EM:08549 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.129(C3)-Rab27aash Rab27btm1.2Seab/SeabH |
| Alternative name | Rab27a Rab27b double knock-out (Rab27a ash/ash Rab27b null/null) |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Rab27aash, Rab27btm1.2Seab |
| Gene/Transgene symbol | Rab27a, Rab27b |
Information from provider
| Provider | Miguel Seabra |
| Provider affiliation | Molecular Medicine Section, National Heart , Imperial College London |
| Additional owner | Prof. Miguel Seabra and Dr. Tanya Tolmachova, Imperial College, London, UK |
| Genetic information | Strain is homozygous for Rab27aash mutation and Rab27b null allele |
| Phenotypic information | Homozygous:Abnormal coat colour pigmentation (ashen) due to Rab27a mutationHeterozygous:normal |
| Breeding history | Rab27aash arose spontaneously on a C3H/He genetic background. Rab27btm1.2Seab was a targeted mutation produced on a GSI-1 embryonic cell line of 129X1/SvJ origin. The stock carrying both mutations was outcrossed to C57BL/6 (backcrossing for 10 generations), followed by sib mating for a further 10 generations. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Griscelli syndrome type 2 / Orphanet_79477
MGI phenotypes (allele matching)
- abnormal platelet dense granule morphology / MGI
- decreased platelet serotonin level / MGI
- increased bleeding time / MGI
- abnormal platelet dense granule physiology / MGI
- decreased platelet ATP level / MGI
- decreased platelet aggregation / MGI
- decreased platelet ADP level / MGI
- decreased platelet dense granule number / MGI
- diluted coat color / MGI
- abnormal coat/hair pigmentation / MGI
- abnormal skin pigmentation / MGI
- abnormal melanocyte morphology / MGI
- abnormal Harderian gland pigmentation / MGI
- impaired natural killer cell mediated cytotoxicity / MGI
- decreased cytotoxic T cell cytolysis / MGI
- immune system phenotype / MGI
- vision/eye phenotype / MGI
- abnormal vesicle-mediated transport / MGI
- abnormal NK cell degranulation / MGI
- abnormal melanosome transport / MGI
- integument phenotype / MGI
- decreased leukocyte cell number / MGI
- decreased neutrophil cell number / MGI
- weight loss / MGI
- hunched posture / MGI
- increased susceptibility to viral infection / MGI
- decreased erythrocyte cell number / MGI
- thrombocytopenia / MGI
- abnormal cytotoxic T cell physiology / MGI
- pancytopenia / MGI
- lethargy / MGI
- increased circulating aspartate transaminase level / MGI
- decreased body temperature / MGI
- increased circulating tumor necrosis factor level / MGI
- increased circulating interferon-gamma level / MGI
- increased circulating interleukin-6 level / MGI
- increased circulating interleukin-1 beta level / MGI
- decreased NK cell degranulation / MGI
- increased circulating lactate dehydrogenase level / MGI
- abnormal blood coagulation / MGI
MGI phenotypes (gene matching)
- decreased leukocyte cell number / MGI
- decreased neutrophil cell number / MGI
- diluted coat color / MGI
- weight loss / MGI
- hunched posture / MGI
- abnormal coat/hair pigmentation / MGI
- abnormal skin pigmentation / MGI
- increased susceptibility to viral infection / MGI
- abnormal neutrophil physiology / MGI
- decreased erythrocyte cell number / MGI
- abnormal melanocyte morphology / MGI
- thrombocytopenia / MGI
- abnormal Harderian gland pigmentation / MGI
- abnormal platelet dense granule morphology / MGI
- decreased platelet serotonin level / MGI
- impaired natural killer cell mediated cytotoxicity / MGI
- abnormal cytotoxic T cell physiology / MGI
- decreased cytotoxic T cell cytolysis / MGI
- pancytopenia / MGI
- lethargy / MGI
- increased circulating aspartate transaminase level / MGI
- cellular phenotype / MGI
- immune system phenotype / MGI
- vision/eye phenotype / MGI
- hypopigmentation / MGI
- decreased body temperature / MGI
- increased bleeding time / MGI
- abnormal vesicle-mediated transport / MGI
- increased circulating tumor necrosis factor level / MGI
- increased circulating interferon-gamma level / MGI
- increased circulating interleukin-6 level / MGI
- increased circulating interleukin-1 beta level / MGI
- abnormal NK cell degranulation / MGI
- decreased NK cell degranulation / MGI
- abnormal melanosome transport / MGI
- abnormal platelet dense granule physiology / MGI
- decreased platelet ATP level / MGI
- decreased platelet aggregation / MGI
- decreased platelet ADP level / MGI
- integument phenotype / MGI
- increased circulating lactate dehydrogenase level / MGI
- decreased platelet dense granule number / MGI
- no abnormal phenotype detected / MGI
- abnormal blood coagulation / MGI
- no phenotypic analysis / MGI
- decreased platelet serotonin level / MGI
- abnormal platelet dense granule physiology / MGI
- decreased platelet aggregation / MGI
- decreased platelet dense granule number / MGI
Literature references
- Rab27b regulates number and secretion of platelet dense granules.;Tolmachova Tanya, Abrink Magnus, Futter Clare E, Authi Kalwant S, Seabra Miguel C, ;2007;Proceedings of the National Academy of Sciences of the United States of America;104;5872-7; 17384153