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| Nomenclature |
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Symbol:
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Lystbg-Btlr
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Name:
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lysosomal trafficking regulator;
beige Bruce Beutler
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MGI ID: |
MGI:3779035 |
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Synonyms: |
Lystm1Btlr, souris |
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Gene:
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Lyst
Location:
Chr13:13590409-13777440 bp, + strand
Genetic Position: Chr13,
5.28 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Undefined |
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Mutation details: This mutation has been identified as a T to A transversion that destroys the donor splice site of intron 27 (GTAAG -> GAAAG) (position 92815 in the Genbank genomic region NC_000079 for linear genomic DNA sequence of Lyst). The mutation is predicted to result in skipping of the 27th of the 53 exons of Lyst, which would shift the reading frame after amino acid position 2474, leading to a premature stop codon at amino acid position 2482. (J:133616)
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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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| References |
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Original: |
J:133616
Rutschmann S et al.,
"Souris is an allele of Lyst and is a model for Chediak-Higashi Syndrome"
MGI Direct Data Submission 2008;():
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All: |
1 reference(s)
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Analysis Tools
