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Rab27aash
Spontaneous Allele Detail
Nomenclature
Symbol: Rab27aash
Name: RAB27A, member RAS oncogene family; ashen
MGI ID: MGI:1856656
Synonyms: ash
Gene: Rab27a  Location: Chr9:73044854-73098501 bp, + strand  Genetic Position: Chr9, 40.08 cM
Rab27aash/Rab27aash and MregdsuRab27aash/Mregdsu Rab27aash

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C3H/HeSn
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsSequence 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. (J:63231)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Rab27a Mutation:  128 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Hemophagocytic Lymphohistiocytosis (J:193137, J:141404)

References
Original:  J:4458 Lane PW, et al., Ashen, a new color mutation on chromosome 9 of the mouse. J Hered. 1979;70:133-135
All:  41 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory