Dst^dt-23Rbrc
Spontaneous Allele Detail

Summary

• Symbol: Dst^dt-23Rbrc
• Name: dystonin; dystonia musculorum 23 RIKEN BioResource Center
• MGI ID: MGI:6119708
• Synonyms: dt^23Rbrc
• Gene: Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
• Alliance: Dst^dt-23Rbrc page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: This spontaneous mutation was established at RIKEN Bioresource Center in 2001. A nonsense mutation within the spectrin repeats of its plakin domain was identified in exon 27, leading to premature stop codon. (J:251779)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 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:251779 Horie M, et al., Characterization of novel dystonia musculorum mutant mice: Implications for central nervous system abnormality. Neurobiol Dis. 2016 Dec;96:271-283
• All: 2 reference(s)