|
|
| Nomenclature |
|
Symbol:
|
Lystbg-J
|
|
Name:
|
lysosomal trafficking regulator;
beige Jackson
|
|
MGI ID: |
MGI:1855969 |
|
Synonyms: |
bgj |
|
Gene:
|
Lyst
Location:
Chr13:13590409-13777440 bp, + strand
Genetic Position: Chr13,
5.28 cM
|
|
Mutation origin |
|
Strain of Origin:
|
C57BL/6J
|
|
Mutation description |
|
Allele
Type: | |
Spontaneous |
|
Mutation: | |
Intragenic deletion |
| |
|
Mutation details: This 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
|
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: |
33 reference(s)
|
|