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Lystbg-18J
Spontaneous Allele Detail
Summary
Symbol: Lystbg-18J
Name: lysosomal trafficking regulator; beige 18 Jackson
MGI ID: MGI:5661588
Gene: Lyst  Location: Chr13:13764982-13953388 bp, + strand  Genetic Position: Chr13, 5.28 cM
Alliance: Lystbg-18J page
Mutation
origin
Strain of Origin:  BKS.Cg-Dock7m +/+ Leprdb/J
Mutation
description
Allele Type:    Spontaneous (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsA spontaneous G-to-A point transition in the fifth base of intron 10 near the splice donor site is predicted to cause skipping of exon 10 and a frameshift that creates a premature stop codon. (J:222308)
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: 1 anatomical structure(s)
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:  225 strains or lines available
References
Original:  J:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All:  2 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
03/19/2024
MGI 6.23
The Jackson Laboratory