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| Nomenclature |
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Symbol:
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Rab27aash
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Name:
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RAB27A, member RAS oncogene family;
ashen
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MGI ID: |
MGI:1856656 |
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Synonyms: |
ash |
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Gene:
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Rab27a
Location:
Chr9:73044865-73097592 bp, + strand
Genetic Position: Chr9,
40.08 cM
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Rab27aash/Rab27aash and MregdsuRab27aash/Mregdsu Rab27aash
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C3H/HeSn
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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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 an intron into the Rab27a message. (J:63231)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Phenotypic Similarity to Human Syndrome: Hemophagocytic Lymphohistiocytosis (J:193137)
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| References |
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Original: |
J:4458
Lane PW et al.,
"Ashen, a new color mutation on chromosome 9 of the mouse."
J Hered 1979;70():133-135
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All: |
35 reference(s)
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Analysis Tools
