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Lystbg-J
Spontaneous Allele Detail
Summary
Symbol: Lystbg-J
Name: lysosomal trafficking regulator; beige Jackson
MGI ID: MGI:1855969
Synonyms: bgj
Gene: Lyst  Location: Chr13:13764982-13953388 bp, + strand  Genetic Position: Chr13, 5.28 cM
Alliance: Lystbg-J page
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 in-frame deletion in exon 54 causing the loss of one of the two consecutive isoleucines at codon 3740 and 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 Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 6 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Lystbg-J
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 6 strains available      Cell Lines: 0 lines available
Carrying any Lyst Mutation:  225 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:  38 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory