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 21 - 30 of 45 Stock Publications
Pubmed ID Authors Title Journal
23460904 Wavre-Shapton ST Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium. PLoS One (2 013) 8:e57769
17062724 Chintala S The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood (2 007) 109:1533-40
23115246 Monfregola J MUNC13-4 protein regulates the oxidative response and is essential for phagosomal maturation and bacterial killing in neutrophils. J Biol Chem (2 012) 287:44603-18
10859366 Wilson SM A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci U S A (2 000) 97:7933-8
14978221 Futter CE The role of Rab27a in the regulation of melanosome distribution within retinal pigment epithelial cells. Mol Biol Cell (2 004) 15:2264-75
2379821 Moore KJ Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations. Genetics (1 990) 125:421-30
11228153 Wu X Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle. J Cell Sci (2 001) 114:1091-100
17761531 Gomi H 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 (2 007) 18:4377-86
3410303 Moore KJ The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln. Genetics (1 988) 119:933-41
21160031 Bolasco G Loss of Rab27 function results in abnormal lung epithelium structure in mice. Am J Physiol Cell Physiol (2 011) 300:C466-76

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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