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| Nomenclature |
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Symbol:
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Bloc1s5mu
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Name:
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biogenesis of organelles complex-1, subunit 5, muted;
muted
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MGI ID: |
MGI:1856106 |
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Synonyms: |
mu |
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Gene:
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Bloc1s5
Location:
Chr13:38602709-38635109 bp, - strand
Genetic Position: Chr13,
18.35 cM
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Bloc1s5mu/Bloc1s5mu
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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STOCK t
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Transposon insertion |
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Mutation details: An early transposon (Etn) insertion has been identified as the mutation underlying the phenotype in muted mice. Analysis of genomic DNA revealed an insertion into the third intron. 183 bp of Etn sequence has been incorporated into the mRNA , likely by the activation of cryptic splice sites within the Etn. This results in an in-frame insertion into the translated protein at position 106, predicting a 246 amino acid protein. A significant reduction in mRNA levels is observed. (J:75830)
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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: Hermansky-Pudlak Syndrome (J:29151)
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| References |
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Analysis Tools
