Dst^{Gt(E182H05)1.2Wrst}
Gene trapped Allele Detail

Summary

• Symbol: Dst^{Gt(E182H05)1.2Wrst}
• Name: dystonin; gene trap E182H05, 1.2, German Gene Trap Consortium
• MGI ID: MGI:7423690
• Synonyms: Dst^Gt-DO
• Gene: Dst Location: Chr1:33947306-34347742 bp, + strand Genetic Position: Chr1, 12.91 cM
• Alliance: Dst^{Gt(E182H05)1.2Wrst} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:332330
• Parent Cell Line: E14TG2a.4 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Modified isoform(s))
• Mutation: Insertion of gene trap vector
• Mutation details: Trapped gene association determined by genome coordinate overlap and strand. The gene trap inserted within the coding region of ABD CH, disrupting the Dst 1 and 2 actin-binding domain-containing isoforms transcribed from upstream promoters and generating a Dystonin-lacZ fusion product. RT-PCR analysis indicates that these isoforms are either absent or barely detectable in homozygotes. In addition, the F1Ex system relies on the sequential use of the Cre and FLP recombinases for the conditional inactivation and reactivation of the gene trap alleles. The first site-specific recombination using FLP recombinase reversed the gene trap cassette from the original mutagenic orientation to a non-mutagenic, inverted orientation. Subsequent recombination using cre recombinase led to inversion of the transgene back to the mutagenic direct orientation. (J:332330)

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: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)