Dtnbp1^sdy-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Dtnbp1^sdy-Btlr
• Name: dystrobrevin binding protein 1; sandy Bruce Beutler
• MGI ID: MGI:3774127
• Synonyms: Dtnbp1^m1Btlr, salt and pepper, spp
• Gene: Dtnbp1 Location: Chr13:45075552-45155614 bp, - strand Genetic Position: Chr13, 21.73 cM
• Alliance: Dtnbp1^sdy-Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The spp mutation corresponds to an A to T transversion in the donor splice site of intron 5 (GTAAGT -> GTTAGT; position 19359 in the Genbank genomic region NC_000079). It is predicted to result in skipping of the 133-nucleotide 5th exon (of 10 total exons), shifting the reading frame so aberrant amino acids are encoded after aa position 74 and creating a premature stop codon that would terminate the protein after aa 76. (J:133620)
• Inheritance: Recessive

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 Dtnbp1 Mutation: 28 strains or lines available

References

• Original: J:133620 Georgel P, et al., Salt and pepper is an allele of Dtnbp1 and affects the immune system. MGI Direct Data Submission. 2008
• All: 3 reference(s)