Dst^em1Htak
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dst^em1Htak
• Name: dystonin; endonuclease-mediated mutation 1, Hirohide Takebayashi
• MGI ID: MGI:7423674
• Synonyms: Dst-b^E2610Ter
• Gene: Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
• Alliance: Dst^em1Htak page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting inserted the mutation responsible for the amino acid substitution of glutamic acid with a termination codon at position 2610 (E2610*). This allele fails to express isoform b. (J:332330)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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: 558 strains or lines available

References

• Original: J:332330 Yoshioka N, et al., Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy. Elife. 2022 Aug 9;11:e78419
• All: 1 reference(s)