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Lystbg-Btlr
Chemically induced Allele Detail
Nomenclature
Symbol: Lystbg-Btlr
Name: lysosomal trafficking regulator; beige Bruce Beutler
MGI ID: MGI:3779035
Synonyms: Lystm1Btlr, souris
Gene: Lyst  Location: Chr13:13590409-13777440 bp, + strand  Genetic Position: Chr13, 5.28 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Undefined
 
Mutation detailsThis 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)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Lyst Mutation:  45 strains or lines available
References
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;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/17/2015
MGI 5.21
The Jackson Laboratory