Dst^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Dst^m1Btlr
• Name: dystonin; mutation 1, Bruce Beutler
• MGI ID: MGI:5619125
• Synonyms: gobble
• Gene: Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
• Alliance: Dst^m1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to C transition at base pair 34,165,155 (v38) on chromosome 1, or base pair 256,949 in the GenBank genomic region NC_000067 within the donor splice site of intron 19 in the longest isoform (i.e., DST-b1; NM_134448). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in an in-frame skipping of the 96-base pair exon 19 (out of 98 total exons). Exon 19 encodes amino acids 778-809 in the DST-b1 protein. Alternatively, a cryptic splice site in exon 19 may be used that would result in a 43-nucleotide deletion in exon 19. Use of a cryptic site would lead to a frame-shift beginning after amino acid 794 of the coded protein and premature termination after the inclusion of 12 aberrant amino acids. (J:218961)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Dst Mutation: 557 strains or lines available

References

• Original: J:218961 SoRelle J, et al., Mutagenetix entry for gobble. MGI Direct Data Submission. 2015
• All: 1 reference(s)