Stock B6.C3-Rab27a<ash> 129-Rab27b<tm1.2Seab>/SeabH

FESA Number

7179

Strain Name

B6.C3-Rab27a<ash> 129-Rab27b<tm1.2Seab>/SeabH

Mutation Strain Type

Attribution

Gene/Allele Information

Allele Name Allele MGI ID Gene Name Gene MGI ID Chromosome
Rab27a<ash> MGI:1856656 Rab27a MGI:1861441 9
Rab27b<tm1.2Seab> MGI:3706986 Rab27b MGI:1931295 18

Phenotypic Description

The stock has an abnormal coat colour pigmentation (ashen) due to the recessive mutation Rab27a<ash>.

Publications

Displaying 31 - 40 of 45 Stock Publications
Pubmed ID Authors Title Journal
11266473 Haddad EK Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice. J Cell Biol (2 001) 152:835-42
11256068 Nadeau JH Modifier genes in mice and humans. Nat Rev Genet (2 001) 2:165-74
21525430 Chiang L Rab27b regulates exocytosis of secretory vesicles in acinar epithelial cells from the lacrimal gland. Am J Physiol Cell Physiol (2 011) 301:C507-21
23671284 Hou Y EPI64B acts as a GTPase-activating protein for Rab27B in pancreatic acinar cells. J Biol Chem (2 013) 288:19548-57
15009730 Nguyen T Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. J Invest Dermatol (2 004) 122:452-60
23281710 Singh RK Distinct and opposing roles for Rab27a/Mlph/MyoVa and Rab27b/Munc13-4 in mast cell secretion. FEBS J (2 013) 280:892-903
11886590 Hume AN The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic (2 002) 3:193-202
12070017 Novak EK 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 (2 002) 100:128-35
17384153 Tolmachova T Rab27b regulates number and secretion of platelet dense granules. Proc Natl Acad Sci U S A (2 007) 104:5872-7
17351642 Jancic C Rab27a regulates phagosomal pH and NADPH oxidase recruitment to dendritic cell phagosomes. Nat Cell Biol (2 007) 9:367-78

Pages

Human Disease Links

Griscelli Syndrome type 2

EMMA ID

EM:08549

Genetic Status

GMO

Background Strain Name

C57BL/6

Background Strain MGI ID

MGI:2159769

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