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Rab27aash
Spontaneous Allele Detail
Summary
Symbol: Rab27aash
Name: RAB27A, member RAS oncogene family; ashen
MGI ID: MGI:1856656
Synonyms: ash
Gene: Rab27a  Location: Chr9:72952136-73004911 bp, + strand  Genetic Position: Chr9, 40.08 cM
Alliance: Rab27aash page
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 intronic sequence into mis-spliced Rab27a mRNA. (J:63231)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Rab27a Mutation:  146 strains or lines available
References
Original:  J:4458 Lane PW, et al., Ashen, a new color mutation on chromosome 9 of the mouse. J Hered. 1979;70(2):133-135
All:  65 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory