Dst^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Dst^m3Btlr
• Name: dystonin; mutation 3, Bruce Beutler
• MGI ID: MGI:5619133
• Synonyms: phelps
• Gene: Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
• Alliance: Dst^m3Btlr 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 A transversion at base pair 34,223,795 (v38) on chromosome 1, or base pair 315,589 in the GenBank genomic region NC_000067 affecting the acceptor splice site of intron 54 in the longest isoform (NM_134448). The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 200-base pair exon 55 (out of 98 total exons) causing a frame-shift, coding of 13 aberrant amino acids followed by a premature stop codon after amino acid 4,546. (J:218968)
• Inheritance: Recessive

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: 556 strains or lines available

References

• Original: J:218968 Reyna C, et al., Mutagenetix entry for phelps. MGI Direct Data Submission. 2015
• All: 1 reference(s)