The beige-J spontaneous mutation Lystbg-J) is a remutation to (Lystbg, and homozygous Lystbg-J mice have an essentially identical phenotype to the original mutants. Homozygotes are immunodeficient, exhibiting decreased endogenous cytotoxic activity as well as having defective cytotoxic T-cell and cytotoxic antibody responses to allogeneic tumor cells. The phenotype closely resembles Chediak-Higashi disease in man.
The Jackson Laboratory
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Lyst | lysosomal trafficking regulator |
Mice homozygous for the beige-J spontaneous mutation (Lystbg-J) are identical to the original beige mutation (Lystbg). The phenotype closely resembles Chediak-Higashi disease in man and similar conditions in mink and cattle. Abnormal giant lysosomal granules occur in all tissues with granule-containing cells, including granulocytes, lymphocytes, cells of the liver, kidney, central nervous system, pancreas, and thyroid, and the ducts of most glands; in type II pneumocytes; in mast cells; and in retinal pigment epithelium. Granulocytes from beige homozygous mutant mice show defective chemotaxis and reduced bactericidal activity. Beige mice are more susceptible than controls to pneumonitis and to various viral, bacterial, and parasitic infections. Natural killer (NK) cells from beige mice exhibit decreased endogenous cytotoxic activity. Beige mice also have a defective cytotoxic T-cell and cytotoxic antibody response to allogeneic tumor cells. Syngeneic tumor cells grow better in beige mice than in littermate controls, an effect thought to be due to the deficiency of NK cells. Beige mice have platelet storage pool deficiency, leading to a prolonged bleeding time. The immunodeficiency of beige mutant mice has been used, especially in combination with the scid mutation (Prkdcscid), in tissue graft and disease studies.
The bg-J mutation arose spontaneously in the C57BL/6J colony at The Jackson Laboratory in 1960. The allele is defined by a non-complementation test with bg.
Allele Name | beige Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | bgj |
Gene Symbol and Name | Lyst, lysosomal trafficking regulator |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 13 |
General Note | 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. |
Molecular Note | 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. |
Mutations Made By | The Jackson Laboratory |
We maintain our C57BL/6J-Lystbg-J/J by intercrossing homozygotes, which obviates the need for genotyping. Homozygotes can be identified readily by their dark gray coat color.
When using the beige Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #000629 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Homozygous for a , Heterozygous or Wild-type for Lyst<bg-J> |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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