Dst^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Dst^m2Btlr
• Name: dystonin; mutation 2, Bruce Beutler
• MGI ID: MGI:5619126
• Synonyms: tinsel
• Gene: Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
• Alliance: Dst^m2Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: ENU mutagenesis induced an A to G transition at base pair 34,164,167 (v38) on chromosome 1, or base pair 255,961 in the GenBank genomic region NC_000067 encoding Dst. The mutation corresponds to residue 2,156 in the muscle-specific Dst isoform (Dst-b1; NM_134448) within exon 17 of 98 total exons residue 2,156 in the neuron-specific Dst isoform (Dst-a1; NM_133833) within exon 17 of 93 total exons, and residue 1,178 in the epithelial-specific Dst isoform (Dst-e; NM_010081) within exon 7 of 24 total exons. The mutation results in a glutamic acid (E) to glycine (G) substitution at position 719 (E719G) in the DST-b1 protein, a glutamic acid (E) to glycine (G) substitution at position 419 (E419G) in the DST-a1 protein, and a glutamic acid (E) to glycine (G) substitution at position 393 (E393G) in the DST-e protein. (J:218962)
• 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: 558 strains or lines available

References

• Original: J:218962 SoRelle J, et al., Mutagenetix entry for tinsel. MGI Direct Data Submission. 2015
• All: 1 reference(s)