Rab27a<ash> Spontaneous Allele Detail MGI Mouse (MGI:1856656)

Rab27a^ash
Spontaneous Allele Detail

Summary

Symbol:	Rab27a^ash
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:	Rab27a^ash page

Rab27a^ash/Rab27a^ash and Mreg^dsuRab27a^ash/Mreg^dsu Rab27a^ash

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 details: Sequence 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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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