IMPC phenotypes (gene matching)
B6.129(C3)-Rab27aash Rab27btm1.2Seab/SeabH
| Status | Available to order |
| EMMA ID | EM:08549 |
| 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