C57BL/6J-Lyst^bg-J/J

Stock number: 000629
Product name: beige Jackson
Research areas: Cardiovascular Research, Dermatology Research, Hematological Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research, Metabolism Research, Mouse/Human Gene Homologs, Research Tools

Description

The beige-J spontaneous mutation Lyst^bg-J) is a remutation to (Lyst^bg, and homozygous Lyst^bg-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.

Detailed description

Mice homozygous for the beige-J spontaneous mutation (Lyst^bg-J) are identical to the original beige mutation (Lyst^bg). 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 (Prkdc^scid), in tissue graft and disease studies.

Development

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

Symbol: Lyst^bg-J
Name: beige Jackson
MGI accession ID: MGI:1855969
Generation method: Spontaneous
Marker symbol: Lyst
Marker name: lysosomal trafficking regulator
Chromosome: 13
Strain of origin: C57BL/6J
Molecular note: This allele is defined by a noncomplementation test with Lyst^bg. 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.
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 Lyst^bg mutation, and has been used extensively in defining locus effects.