Lyst^bg-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Lyst^bg-Btlr
• Name: lysosomal trafficking regulator; beige Bruce Beutler
• MGI ID: MGI:3779035
• Synonyms: Lyst^m1Btlr, souris
• Gene: Lyst Location: Chr13:13764982-13953388 bp, + strand Genetic Position: Chr13, 5.28 cM
• Alliance: Lyst^bg-Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Undefined
• Mutation details: This mutation has been identified as a T to A transversion that destroys the donor splice site of intron 27 (GTAAG -> GAAAG) (position 92815 in the Genbank genomic region NC_000079 for linear genomic DNA sequence of Lyst). The mutation is predicted to result in skipping of the 27th of the 53 exons of Lyst, which would shift the reading frame after amino acid position 2474, leading to a premature stop codon at amino acid position 2482. (J:133616)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 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:133616 Rutschmann S, et al., Souris is an allele of Lyst and is a model for Chediak-Higashi Syndrome. MGI Direct Data Submission. 2008
• All: 3 reference(s)