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Lystbg-J
Spontaneous Allele Detail
Nomenclature
Symbol: Lystbg-J
Name: lysosomal trafficking regulator; beige Jackson
MGI ID: MGI:1855969
Synonyms: bgj
Gene: Lyst  Location: Chr13:13590397-13778803 bp, + strand  Genetic Position: Chr13, 5.28 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThis allele is defined by a noncomplementation test with Lystbg. This mutation is the result of a 3 bp deletion in exon 54 causing an isoleucine deletion at codon 3741 near the carboxy terminus of the protein. This deletion affects the WD40 domain. (J:7539, J:173521)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 5 strains available      Cell Lines: 0 lines available
Carrying any Lyst Mutation:  142 strains or lines available
Notes
This remutation occurred spontaneously in the C57BL/6J strain at The Jackson Laboratory (J:5311). It has essentially identical effects to the original Lystbg mutation, and has been used extensively in defining locus effects.
References
Original:  J:5311 Lane PW, et al., Susceptibility to spontaneous pneumonitis in an inbred strain of beige and satin mice. Genetics. 1972 Nov;72(3):451-60
All:  34 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
05/15/2018
MGI 6.12
The Jackson Laboratory